A0A8I5KQH3 · A0A8I5KQH3_HUMAN
- ProteinKRIT1 ankyrin repeat containing
- GeneKRIT1
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids262 (go to sequence)
- Protein existencePredicted
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs878871066 | 4 | P>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.334) - SIFT: tolerated - low confidence (0.27) Somatic: No Accession: NC_000007.14:g.92242126G>T Codon: CCA/ACA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92242126G>T Locations: - p.Pro4Thr (Ensembl:ENST00000691239) - c.10C>A (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs374117797 | 5 | E>Q | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.211) - SIFT: tolerated - low confidence (0.21) Somatic: No Accession: NC_000007.14:g.92242123C>G Codon: GAA/CAA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92242123C>G Locations: - p.Glu5Gln (Ensembl:ENST00000691239) - c.13G>C (Ensembl:ENST00000691239) Source type: large scale study | |||||||
rs202176475 | 7 | I>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.054) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000007.14:g.92242115T>C Codon: ATA/ATG Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92242115T>C Locations: - p.Ile7Met (Ensembl:ENST00000691239) - c.21A>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
COSV56061490 rs1218350640 | 7 | I>T | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.2) Somatic: Yes Accession: NC_000007.14:g.92242116A>G Codon: ATA/ACA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92242116A>G Locations: - p.Ile7Thr (Ensembl:ENST00000691239) - c.20T>C (Ensembl:ENST00000691239) Source type: large scale study | |||||||
rs1799805515 | 7 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.2) Somatic: No Accession: NC_000007.14:g.92242117T>C Codon: ATA/GTA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92242117T>C Locations: - p.Ile7Val (Ensembl:ENST00000691239) - c.19A>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1585030516 | 8 | E>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.148) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000007.14:g.92242113T>G Codon: GAA/GCA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92242113T>G Locations: - p.Glu8Ala (Ensembl:ENST00000691239) - c.23A>C (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
CA16042734 RCV000412729 rs1057518241 | 10 | A>G | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.455) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000007.14:g.92242107G>C Codon: GCA/GGA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92242107G>C Locations: - p.Ala10Gly (Ensembl:ENST00000691239) - c.29C>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1015584962 | 12 | V>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.153) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000007.14:g.92242102C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92242102C>T Locations: - p.Val12Ile (Ensembl:ENST00000691239) - c.34G>A (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1585030358 | 14 | V>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.961) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92242095A>G Codon: GTT/GCT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92242095A>G Locations: - p.Val14Ala (Ensembl:ENST00000691239) - c.41T>C (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs924507453 | 15 | I>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000007.14:g.92242093T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92242093T>C Locations: - p.Ile15Val (Ensembl:ENST00000691239) - c.43A>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
CM150780 COSV56060233 RCV001160244 RCV001160245 RCV002558516 rs370360812 | 16 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Cerebral cavernous malformation (ClinVar) Angiokeratoma corporis diffusum with arteriovenous fistulas (ClinVar) Inborn genetic diseases (ClinVar) | Likely benign (Ensembl, ClinVar, NCI-TCGA) | NCI-TCGA cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.0000199 (gnomAD) - MAF: 0.00002 (ClinVar) Accession: NC_000007.14:g.92242090G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92242090G>A Locations: - p.Arg16Cys (Ensembl:ENST00000691239) - c.46C>T (Ensembl:ENST00000691239) Disease association: - Angiokeratoma corporis diffusum with arteriovenous fistulas - Cerebral cavernous malformation (CCM) - Inborn genetic diseases Source type: large scale study Cross-references: - NCI-TCGA: CM150780 | |||||||
COSV56059451 rs1313893193 | 16 | R>H | Variant of uncertain significance (Ensembl) | cosmic curated TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000007.14:g.92242089C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92242089C>T Locations: - p.Arg16His (Ensembl:ENST00000691239) - c.47G>A (Ensembl:ENST00000691239) Source type: large scale study | |||||||
RCV001305774 RCV002291745 rs1313893193 | 16 | R>P | Cerebral cavernous malformation (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92242089C>G Codon: CGT/CCT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92242089C>G Locations: - p.Arg16Pro (Ensembl:ENST00000691239) - c.47G>C (Ensembl:ENST00000691239) Disease association: - Cerebral cavernous malformation (CCM) Source type: large scale study Cross-references: | |||||||
rs1799796311 | 17 | P>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92242087G>C Codon: CCA/GCA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92242087G>C Locations: - p.Pro17Ala (Ensembl:ENST00000691239) - c.49C>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs77066620 | 17 | P>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92242086G>T Codon: CCA/CAA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92242086G>T Locations: - p.Pro17Gln (Ensembl:ENST00000691239) - c.50C>A (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1799796311 | 17 | P>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92242087G>T Codon: CCA/ACA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92242087G>T Locations: - p.Pro17Thr (Ensembl:ENST00000691239) - c.49C>A (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1281022025 | 18 | K>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.962) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92242084T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92242084T>C Locations: - p.Lys18Glu (Ensembl:ENST00000691239) - c.52A>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1233466287 | 21 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000007.14:g.92242075C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92242075C>T Locations: - p.Ala21Thr (Ensembl:ENST00000691239) - c.61G>A (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1799793450 | 22 | S>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.948) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.92242072T>C Codon: AGT/GGT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92242072T>C Locations: - p.Ser22Gly (Ensembl:ENST00000691239) - c.64A>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs746318987 | 22 | S>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.977) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000007.14:g.92242071C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92242071C>T Locations: - p.Ser22Asn (Ensembl:ENST00000691239) - c.65G>A (Ensembl:ENST00000691239) Source type: large scale study | |||||||
rs1563325257 | 23 | L>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.849) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000007.14:g.92242069G>T Codon: CTC/ATC Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92242069G>T Locations: - p.Leu23Ile (Ensembl:ENST00000691239) - c.67C>A (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
RCV001198077 rs1799792039 | 23 | L>R | Cerebral cavernous malformation (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.82) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92242068A>C Codon: CTC/CGC Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92242068A>C Locations: - p.Leu23Arg (Ensembl:ENST00000691239) - c.68T>G (Ensembl:ENST00000691239) Disease association: - Cerebral cavernous malformation (CCM) Source type: large scale study | |||||||
rs1310750547 | 24 | N>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.248) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000007.14:g.92242066T>C Codon: AAT/GAT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92242066T>C Locations: - p.Asn24Asp (Ensembl:ENST00000691239) - c.70A>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1310750547 | 24 | N>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.78) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.92242066T>G Codon: AAT/CAT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92242066T>G Locations: - p.Asn24His (Ensembl:ENST00000691239) - c.70A>C (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1799790989 | 24 | N>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.98) Somatic: No Accession: NC_000007.14:g.92242065T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92242065T>C Locations: - p.Asn24Ser (Ensembl:ENST00000691239) - c.71A>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
COSV56062828 rs779446044 | 25 | S>F | Variant of uncertain significance (Ensembl) | cosmic curated ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000007.14:g.92242062G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92242062G>A Locations: - p.Ser25Phe (Ensembl:ENST00000691239) - c.74C>T (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
CA4339488 COSV56059748 RCV000266475 RCV000379704 RCV000721899 RCV004549823 rs34358665 | 26 | R>Q | Cerebral cavernous malformation (ClinVar) KRIT1-related disorder (ClinVar) Angiokeratoma corporis diffusum with arteriovenous fistulas (ClinVar) | Benign (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.137) - SIFT: tolerated (0.53) Somatic: Yes Population frequencies: - MAF: 0.00101 (ClinVar) Accession: NC_000007.14:g.92242059C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92242059C>T Locations: - p.Arg26Gln (Ensembl:ENST00000691239) - c.77G>A (Ensembl:ENST00000691239) Disease association: - Angiokeratoma corporis diffusum with arteriovenous fistulas - Cerebral cavernous malformation (CCM) - KRIT1-related disorder Source type: large scale study | |||||||
COSV56066410 rs570830572 | 26 | R>W | cosmic curated 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.874) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000007.14:g.92242060G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92242060G>A Locations: - p.Arg26Trp (Ensembl:ENST00000691239) - c.76C>T (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs754156971 | 28 | Y>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92242054A>G Codon: TAC/CAC Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92242054A>G Locations: - p.Tyr28His (Ensembl:ENST00000691239) - c.82T>C (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs148993606 | 29 | R>K | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.088) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000007.14:g.92242050C>T Codon: AGA/AAA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92242050C>T Locations: - p.Arg29Lys (Ensembl:ENST00000691239) - c.86G>A (Ensembl:ENST00000691239) Source type: large scale study | |||||||
rs1799787476 | 30 | A>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.92242047G>C Codon: GCT/GGT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92242047G>C Locations: - p.Ala30Gly (Ensembl:ENST00000691239) - c.89C>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
RCV001768739 rs1367968203 | 31 | K>M | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92242044T>A Codon: AAG/ATG Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92242044T>A Locations: - p.Lys31Met (Ensembl:ENST00000691239) - c.92A>T (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1433372919 | 31 | K>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92242043C>A Codon: AAG/AAT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92242043C>A Locations: - p.Lys31Asn (Ensembl:ENST00000691239) - c.93G>T (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1367968203 | 31 | K>R | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000007.14:g.92242044T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92242044T>C Locations: - p.Lys31Arg (Ensembl:ENST00000691239) - c.92A>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
COSV56066469 rs767430726 | 32 | S>L | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.29) Somatic: Yes Accession: NC_000007.14:g.92242041G>A Codon: TCA/TTA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92242041G>A Locations: - p.Ser32Leu (Ensembl:ENST00000691239) - c.95C>T (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1273978810 | 33 | Y>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.92242038dup Codon: TAT/TAAT Consequence type: stop gained Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92242038dup Locations: - p.Tyr33Ter (Ensembl:ENST00000691239) - c.98dup (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1159285806 | 34 | E>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92242035T>G Codon: GAA/GCA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92242035T>G Locations: - p.Glu34Ala (Ensembl:ENST00000691239) - c.101A>C (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1799781432 | 34 | E>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.961) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000007.14:g.92242034T>G Codon: GAA/GAC Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92242034T>G Locations: - p.Glu34Asp (Ensembl:ENST00000691239) - c.102A>C (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs757766540 | 37 | L>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.864) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92241145A>G Codon: TTG/TCG Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92241145A>G Locations: - p.Leu37Ser (Ensembl:ENST00000691239) - c.110T>C (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1265322620 | 38 | H>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000007.14:g.92241142T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92241142T>C Locations: - p.His38Arg (Ensembl:ENST00000691239) - c.113A>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1205643727 | 39 | E>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000007.14:g.92241138T>G Codon: GAA/GAC Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92241138T>G Locations: - p.Glu39Asp (Ensembl:ENST00000691239) - c.117A>C (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs755097554 | 40 | V>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000007.14:g.92241137C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92241137C>T Locations: - p.Val40Ile (Ensembl:ENST00000691239) - c.118G>A (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1258414309 | 41 | P>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.94) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.92241134G>C Codon: CCC/GCC Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92241134G>C Locations: - p.Pro41Ala (Ensembl:ENST00000691239) - c.121C>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1258414309 | 41 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.963) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000007.14:g.92241134G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92241134G>A Locations: - p.Pro41Ser (Ensembl:ENST00000691239) - c.121C>T (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1799540757 | 42 | I>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.122) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000007.14:g.92241131T>A Codon: ATT/TTT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92241131T>A Locations: - p.Ile42Phe (Ensembl:ENST00000691239) - c.124A>T (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
RCV001247250 rs778226731 | 42 | I>T | Cerebral cavernous malformation (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.083) - SIFT: tolerated (0.63) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000007.14:g.92241130A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92241130A>G Locations: - p.Ile42Thr (Ensembl:ENST00000691239) - c.125T>C (Ensembl:ENST00000691239) Disease association: - Cerebral cavernous malformation (CCM) Source type: large scale study Cross-references: | |||||||
rs1421882812 | 44 | G>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92241124C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92241124C>T Locations: - p.Gly44Glu (Ensembl:ENST00000691239) - c.131G>A (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1413016568 | 44 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92241125C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92241125C>T Locations: - p.Gly44Arg (Ensembl:ENST00000691239) - c.130G>A (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs756365172 | 45 | Q>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.51) Somatic: No Accession: NC_000007.14:g.92241122G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92241122G>C Locations: - p.Gln45Glu (Ensembl:ENST00000691239) - c.133C>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs756365172 | 45 | Q>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.92241122G>T Codon: CAG/AAG Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92241122G>T Locations: - p.Gln45Lys (Ensembl:ENST00000691239) - c.133C>A (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
RCV001158905 RCV001158906 rs138431665 | 46 | K>E | Cerebral cavernous malformation (ClinVar) Angiokeratoma corporis diffusum with arteriovenous fistulas (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.61) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000007.14:g.92241119T>C Codon: AAA/GAA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92241119T>C Locations: - p.Lys46Glu (Ensembl:ENST00000691239) - c.136A>G (Ensembl:ENST00000691239) Disease association: - Angiokeratoma corporis diffusum with arteriovenous fistulas - Cerebral cavernous malformation (CCM) Source type: large scale study | |||||||
rs767659177 | 47 | K>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.434) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000007.14:g.92241116T>G Codon: AAA/CAA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92241116T>G Locations: - p.Lys47Gln (Ensembl:ENST00000691239) - c.139A>C (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1382124919 | 49 | R>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.732) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.92241110T>C Codon: AGA/GGA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92241110T>C Locations: - p.Arg49Gly (Ensembl:ENST00000691239) - c.145A>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1799533617 | 50 | K>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.339) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000007.14:g.92241106T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92241106T>C Locations: - p.Lys50Arg (Ensembl:ENST00000691239) - c.149A>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs754979248 | 51 | K>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.92241104T>A Codon: AAA/TAA Consequence type: stop gained Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92241104T>A Locations: - p.Lys51Ter (Ensembl:ENST00000691239) - c.151A>T (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1799532226 | 51 | K>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.977) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92241103T>A Codon: AAA/ATA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92241103T>A Locations: - p.Lys51Ile (Ensembl:ENST00000691239) - c.152A>T (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1799531802 | 51 | K>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.938) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92241102T>G Codon: AAA/AAC Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92241102T>G Locations: - p.Lys51Asn (Ensembl:ENST00000691239) - c.153A>C (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs765145742 | 53 | L>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.92241096T>A Codon: TTA/TTT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92241096T>A Locations: - p.Leu53Phe (Ensembl:ENST00000691239) - c.159A>T (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs750425590 | 53 | L>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92241097A>G Codon: TTA/TCA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92241097A>G Locations: - p.Leu53Ser (Ensembl:ENST00000691239) - c.158T>C (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs761679956 | 56 | T>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000007.14:g.92241089T>C Codon: ACG/GCG Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92241089T>C Locations: - p.Thr56Ala (Ensembl:ENST00000691239) - c.166A>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs753631870 | 56 | T>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.122) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000007.14:g.92241088G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92241088G>A Locations: - p.Thr56Met (Ensembl:ENST00000691239) - c.167C>T (Ensembl:ENST00000691239) Source type: large scale study | |||||||
rs753631870 | 56 | T>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.485) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.92241088G>C Codon: ACG/AGG Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92241088G>C Locations: - p.Thr56Arg (Ensembl:ENST00000691239) - c.167C>G (Ensembl:ENST00000691239) Source type: large scale study | |||||||
rs760394812 | 57 | K>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.086) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000007.14:g.92241085T>C Codon: AAA/AGA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92241085T>C Locations: - p.Lys57Arg (Ensembl:ENST00000691239) - c.170A>G (Ensembl:ENST00000691239) Source type: large scale study | |||||||
rs1259089506 | 58 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92241082A>G Codon: CTT/CCT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92241082A>G Locations: - p.Leu58Pro (Ensembl:ENST00000691239) - c.173T>C (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1192358468 | 59 | Q>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.92241080G>A Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92241080G>A Locations: - p.Gln59Ter (Ensembl:ENST00000691239) - c.175C>T (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs866162290 | 59 | Q>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000007.14:g.92241079T>C Codon: CAA/CGA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92241079T>C Locations: - p.Gln59Arg (Ensembl:ENST00000691239) - c.176A>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs372556536 | 60 | G>V | ESP TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.353) - SIFT: tolerated (0.43) Somatic: No Accession: NC_000007.14:g.92241076C>A Codon: GGC/GTC Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92241076C>A Locations: - p.Gly60Val (Ensembl:ENST00000691239) - c.179G>T (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
RCV001755181 rs931432552 | 61 | N>I | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.073) - SIFT: tolerated (0.11) Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000007.14:g.92241073T>A Codon: AAC/ATC Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92241073T>A Locations: - p.Asn61Ile (Ensembl:ENST00000691239) - c.182A>T (Ensembl:ENST00000691239) Source type: large scale study | |||||||
rs1445762450 | 62 | S>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.92241071T>C Codon: AGT/GGT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92241071T>C Locations: - p.Ser62Gly (Ensembl:ENST00000691239) - c.184A>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs774985805 | 63 | E>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.304) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.92241067T>G Codon: GAA/GCA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92241067T>G Locations: - p.Glu63Ala (Ensembl:ENST00000691239) - c.188A>C (Ensembl:ENST00000691239) Source type: large scale study | |||||||
rs1272213726 | 63 | E>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.66) Somatic: No Accession: NC_000007.14:g.92241066T>G Codon: GAA/GAC Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92241066T>G Locations: - p.Glu63Asp (Ensembl:ENST00000691239) - c.189A>C (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
CA4339454 RCV000624959 rs771656368 | 66 | Q>* | Cerebral cavernous malformation (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar ExAC dbSNP gnomAD | ||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000007.14:g.92241059G>A Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92241059G>A Locations: - p.Gln66Ter (Ensembl:ENST00000691239) - c.196C>T (Ensembl:ENST00000691239) Disease association: - Cerebral cavernous malformation (CCM) Source type: large scale study Cross-references: | |||||||
rs1585022526 | 68 | I>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.225) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000007.14:g.92241053T>C Codon: ATA/GTA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92241053T>C Locations: - p.Ile68Val (Ensembl:ENST00000691239) - c.202A>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
RCV001382706 rs1799516672 | 69 | L>* | Cerebral cavernous malformation (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.92241049A>T Codon: TTG/TAG Consequence type: stop gained Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92241049A>T Locations: - p.Leu69Ter (Ensembl:ENST00000691239) - c.206T>A (Ensembl:ENST00000691239) Disease association: - Cerebral cavernous malformation (CCM) Source type: large scale study | |||||||
rs1799516672 | 69 | L>S | Pathogenic (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92241049A>G Codon: TTG/TCG Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92241049A>G Locations: - p.Leu69Ser (Ensembl:ENST00000691239) - c.206T>C (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1050501717 | 70 | D>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.076) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.92241046T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92241046T>C Locations: - p.Asp70Gly (Ensembl:ENST00000691239) - c.209A>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1440357472 | 72 | V>A | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.572) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92241040A>G Codon: GTA/GCA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92241040A>G Locations: - p.Val72Ala (Ensembl:ENST00000691239) - c.215T>C (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
COSV60666655 rs775059905 | 72 | V>I | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.065) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000007.14:g.92241041C>T Codon: GTA/ATA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92241041C>T Locations: - p.Val72Ile (Ensembl:ENST00000691239) - c.214G>A (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs771579206 | 73 | V>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.5) Somatic: No Accession: NC_000007.14:g.92241037A>G Codon: GTA/GCA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92241037A>G Locations: - p.Val73Ala (Ensembl:ENST00000691239) - c.218T>C (Ensembl:ENST00000691239) Source type: large scale study | |||||||
rs1799508200 | 75 | T>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000007.14:g.92241032T>C Codon: ACC/GCC Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92241032T>C Locations: - p.Thr75Ala (Ensembl:ENST00000691239) - c.223A>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
RCV001158903 RCV001158904 rs1799505965 | 77 | K>R | Cerebral cavernous malformation (ClinVar) Angiokeratoma corporis diffusum with arteriovenous fistulas (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.22) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000007.14:g.92241025T>C Codon: AAA/AGA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92241025T>C Locations: - p.Lys77Arg (Ensembl:ENST00000691239) - c.230A>G (Ensembl:ENST00000691239) Disease association: - Angiokeratoma corporis diffusum with arteriovenous fistulas - Cerebral cavernous malformation (CCM) Source type: large scale study Cross-references: | |||||||
rs1370334322 | 78 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000007.14:g.92241022G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92241022G>A Locations: - p.Pro78Leu (Ensembl:ENST00000691239) - c.233C>T (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs116801031 | 79 | I>F | Likely benign (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.325) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92241020T>A Codon: ATT/TTT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92241020T>A Locations: - p.Ile79Phe (Ensembl:ENST00000691239) - c.235A>T (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
RCV000964766 RCV003169482 rs116801031 | 79 | I>V | Cerebral cavernous malformation (ClinVar) Inborn genetic diseases (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.08) Somatic: No Population frequencies: - MAF: 0.0006 (ClinVar) Accession: NC_000007.14:g.92241020T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92241020T>C Locations: - p.Ile79Val (Ensembl:ENST00000691239) - c.235A>G (Ensembl:ENST00000691239) Disease association: - Cerebral cavernous malformation (CCM) - Inborn genetic diseases Source type: large scale study | |||||||
rs1799503407 | 81 | P>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.454) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.92241014G>C Codon: CCT/GCT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92241014G>C Locations: - p.Pro81Ala (Ensembl:ENST00000691239) - c.241C>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs781265273 | 81 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.887) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.92241013G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92241013G>A Locations: - p.Pro81Leu (Ensembl:ENST00000691239) - c.242C>T (Ensembl:ENST00000691239) Source type: large scale study | |||||||
rs749330621 | 82 | A>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.49) Somatic: No Accession: NC_000007.14:g.92241010G>C Codon: GCA/GGA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92241010G>C Locations: - p.Ala82Gly (Ensembl:ENST00000691239) - c.245C>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
RCV001387434 rs751651833 | 84 | Q>* | Cerebral cavernous malformation (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar ExAC dbSNP gnomAD | ||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000007.14:g.92241005G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92241005G>A Locations: - p.Gln84Ter (Ensembl:ENST00000691239) - c.250C>T (Ensembl:ENST00000691239) Disease association: - Cerebral cavernous malformation (CCM) Source type: large scale study Cross-references: | |||||||
rs1427367978 | 84 | Q>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.649) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.92241004T>A Codon: CAG/CTG Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92241004T>A Locations: - p.Gln84Leu (Ensembl:ENST00000691239) - c.251A>T (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1427367978 | 84 | Q>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.809) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.92241004T>G Codon: CAG/CCG Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92241004T>G Locations: - p.Gln84Pro (Ensembl:ENST00000691239) - c.251A>C (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1307060289 | 85 | G>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92241001C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92241001C>T Locations: - p.Gly85Asp (Ensembl:ENST00000691239) - c.254G>A (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1585022043 | 86 | I>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000007.14:g.92240999T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92240999T>C Locations: - p.Ile86Val (Ensembl:ENST00000691239) - c.256A>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs747325378 | 87 | R>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.038) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000007.14:g.92240996T>C Codon: AGA/GGA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92240996T>C Locations: - p.Arg87Gly (Ensembl:ENST00000691239) - c.259A>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1335478074 | 87 | R>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.92240995C>T Codon: AGA/AAA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92240995C>T Locations: - p.Arg87Lys (Ensembl:ENST00000691239) - c.260G>A (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1335478074 | 87 | R>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.053) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000007.14:g.92240995C>G Codon: AGA/ACA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92240995C>G Locations: - p.Arg87Thr (Ensembl:ENST00000691239) - c.260G>C (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs899688735 | 88 | G>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92237759C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92237759C>T Locations: - p.Gly88Glu (Ensembl:ENST00000691239) - c.263G>A (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
CM022615 RCV000721881 RCV000803135 rs1563313372 | 90 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) Cerebral cavernous malformation (ClinVar) | Pathogenic (Ensembl, ClinVar, NCI-TCGA) | NCI-TCGA ClinVar Ensembl dbSNP | ||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.92237754G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92237754G>A Locations: - p.Arg90Ter (Ensembl:ENST00000691239) - c.268C>T (Ensembl:ENST00000691239) Disease association: - Cerebral cavernous malformation (CCM) Source type: large scale study Cross-references: - NCI-TCGA: CM022615 | |||||||
rs747189196 | 90 | R>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92237753C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92237753C>T Locations: - p.Arg90Gln (Ensembl:ENST00000691239) - c.269G>A (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1235381178 | 93 | L>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.444) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000007.14:g.92237744A>G Codon: CTA/CCA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92237744A>G Locations: - p.Leu93Pro (Ensembl:ENST00000691239) - c.278T>C (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1364075807 | 95 | K>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.682) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.92237739T>C Codon: AAA/GAA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92237739T>C Locations: - p.Lys95Glu (Ensembl:ENST00000691239) - c.283A>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1180642422 | 96 | K>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.225) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000007.14:g.92237736T>C Codon: AAA/GAA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92237736T>C Locations: - p.Lys96Glu (Ensembl:ENST00000691239) - c.286A>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs199905288 | 98 | P>S | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.087) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000007.14:g.92237730G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92237730G>A Locations: - p.Pro98Ser (Ensembl:ENST00000691239) - c.292C>T (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
RCV001061809 rs1445866560 | 99 | L>Q | Cerebral cavernous malformation (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.977) - SIFT: tolerated (0.09) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000007.14:g.92237726A>T Codon: CTG/CAG Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92237726A>T Locations: - p.Leu99Gln (Ensembl:ENST00000691239) - c.296T>A (Ensembl:ENST00000691239) Disease association: - Cerebral cavernous malformation (CCM) Source type: large scale study | |||||||
rs1420680753 | 100 | D>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.589) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000007.14:g.92237723T>G Codon: GAT/GCT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92237723T>G Locations: - p.Asp100Ala (Ensembl:ENST00000691239) - c.299A>C (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1420680753 | 100 | D>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.862) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92237723T>A Codon: GAT/GTT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92237723T>A Locations: - p.Asp100Val (Ensembl:ENST00000691239) - c.299A>T (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs147568834 | 101 | G>E | Benign (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.937) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000007.14:g.92237720C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92237720C>T Locations: - p.Gly101Glu (Ensembl:ENST00000691239) - c.302G>A (Ensembl:ENST00000691239) Source type: large scale study | |||||||
CA16605918 RCV000427958 RCV002519528 RCV004551445 rs1057521140 | 101 | G>R | Cerebral cavernous malformation (ClinVar) KRIT1-related disorder (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000007.14:g.92237721C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92237721C>T Locations: - p.Gly101Arg (Ensembl:ENST00000691239) - c.301G>A (Ensembl:ENST00000691239) Disease association: - Cerebral cavernous malformation (CCM) - KRIT1-related disorder Source type: large scale study | |||||||
CA4339419 RCV000265398 RCV000320476 rs147568834 | 101 | G>V | Cerebral cavernous malformation (ClinVar) Angiokeratoma corporis diffusum with arteriovenous fistulas (ClinVar) | Benign (Ensembl, ClinVar) | ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.749) - SIFT: tolerated (0.13) Somatic: No Population frequencies: - MAF: 0.00028 (ClinVar) Accession: NC_000007.14:g.92237720C>A Codon: GGA/GTA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92237720C>A Locations: - p.Gly101Val (Ensembl:ENST00000691239) - c.302G>T (Ensembl:ENST00000691239) Disease association: - Angiokeratoma corporis diffusum with arteriovenous fistulas - Cerebral cavernous malformation (CCM) Source type: large scale study | |||||||
rs1329724001 | 103 | K>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.5) Somatic: No Accession: NC_000007.14:g.92237714T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92237714T>C Locations: - p.Lys103Arg (Ensembl:ENST00000691239) - c.308A>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs755998845 | 105 | G>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.92237709C>A Codon: GGC/TGC Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92237709C>A Locations: - p.Gly105Cys (Ensembl:ENST00000691239) - c.313G>T (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs376022532 | 105 | G>D | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.937) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000007.14:g.92237708C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92237708C>T Locations: - p.Gly105Asp (Ensembl:ENST00000691239) - c.314G>A (Ensembl:ENST00000691239) Source type: large scale study | |||||||
rs376022532 | 105 | G>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.92237708C>A Codon: GGC/GTC Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92237708C>A Locations: - p.Gly105Val (Ensembl:ENST00000691239) - c.314G>T (Ensembl:ENST00000691239) Source type: large scale study | |||||||
rs754710526 | 106 | R>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.053) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.92237706T>C Codon: AGA/GGA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92237706T>C Locations: - p.Arg106Gly (Ensembl:ENST00000691239) - c.316A>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
COSV60667337 rs1798712153 | 106 | R>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.8) Somatic: Yes Accession: NC_000007.14:g.92237705C>T Codon: AGA/AAA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92237705C>T Locations: - p.Arg106Lys (Ensembl:ENST00000691239) - c.317G>A (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1237112169 | 107 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.068) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.92237703C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92237703C>T Locations: - p.Glu107Lys (Ensembl:ENST00000691239) - c.319G>A (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs766038368 | 108 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.962) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000007.14:g.92237700C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92237700C>T Locations: - p.Ala108Thr (Ensembl:ENST00000691239) - c.322G>A (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1336315291 | 108 | A>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.547) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000007.14:g.92237699G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92237699G>A Locations: - p.Ala108Val (Ensembl:ENST00000691239) - c.323C>T (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs765675250 | 111 | F>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.17) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.92237689A>C, NC_000007.14:g.92237689A>T Codon: TTT/TTG Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92237689A>C, NC_000007.14:g.92237689A>T Locations: - p.Phe111Leu (Ensembl:ENST00000691239) - c.333T>G (Ensembl:ENST00000691239) - c.333T>A (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1798706139 | 113 | V>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.92237685C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92237685C>T Locations: - p.Val113Ile (Ensembl:ENST00000691239) - c.337G>A (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1447587014 | 114 | P>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000007.14:g.92237682G>C Codon: CCA/GCA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92237682G>C Locations: - p.Pro114Ala (Ensembl:ENST00000691239) - c.340C>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs377033859 | 116 | V>I | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.102) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.92237676C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92237676C>T Locations: - p.Val116Ile (Ensembl:ENST00000691239) - c.346G>A (Ensembl:ENST00000691239) Source type: large scale study | |||||||
rs1798703959 | 118 | K>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.92237670T>C Codon: AAA/GAA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92237670T>C Locations: - p.Lys118Glu (Ensembl:ENST00000691239) - c.352A>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1798703452 | 118 | K>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.788) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000007.14:g.92237669T>C Codon: AAA/AGA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92237669T>C Locations: - p.Lys118Arg (Ensembl:ENST00000691239) - c.353A>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1469867475 | 119 | D>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.181) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.92236542T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92236542T>C Locations: - p.Asp119Gly (Ensembl:ENST00000691239) - c.356A>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1274117057 | 120 | N>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.726) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.92236539T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92236539T>C Locations: - p.Asn120Ser (Ensembl:ENST00000691239) - c.359A>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1180804711 | 121 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.179) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000007.14:g.92236536G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92236536G>A Locations: - p.Thr121Ile (Ensembl:ENST00000691239) - c.362C>T (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs766114156 | 124 | T>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.48) Somatic: No Accession: NC_000007.14:g.92236528T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92236528T>C Locations: - p.Thr124Ala (Ensembl:ENST00000691239) - c.370A>G (Ensembl:ENST00000691239) Source type: large scale study | |||||||
rs1798468453 | 125 | Y>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.824) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.92236524T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92236524T>C Locations: - p.Tyr125Cys (Ensembl:ENST00000691239) - c.374A>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs758062997 | 125 | Y>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000007.14:g.92236525A>G Codon: TAT/CAT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92236525A>G Locations: - p.Tyr125His (Ensembl:ENST00000691239) - c.373T>C (Ensembl:ENST00000691239) Source type: large scale study | |||||||
rs758062997 | 125 | Y>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.264) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000007.14:g.92236525A>T Codon: TAT/AAT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92236525A>T Locations: - p.Tyr125Asn (Ensembl:ENST00000691239) - c.373T>A (Ensembl:ENST00000691239) Source type: large scale study | |||||||
rs1232504536 | 126 | T>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000007.14:g.92236521G>T Codon: ACC/AAC Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92236521G>T Locations: - p.Thr126Asn (Ensembl:ENST00000691239) - c.377C>A (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1563309884 | 126 | T>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.92236522T>A Codon: ACC/TCC Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92236522T>A Locations: - p.Thr126Ser (Ensembl:ENST00000691239) - c.376A>T (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
COSV60669135 rs1216285612 | 127 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.889) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000007.14:g.92236518G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92236518G>A Locations: - p.Pro127Leu (Ensembl:ENST00000691239) - c.380C>T (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1216285612 | 127 | P>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.958) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000007.14:g.92236518G>T Codon: CCA/CAA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92236518G>T Locations: - p.Pro127Gln (Ensembl:ENST00000691239) - c.380C>A (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
RCV001384337 rs2131676374 | 128 | G>* | Cerebral cavernous malformation (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.92236516C>A Codon: GGA/TGA Consequence type: stop gained Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92236516C>A Locations: - p.Gly128Ter (Ensembl:ENST00000691239) - c.382G>T (Ensembl:ENST00000691239) Disease association: - Cerebral cavernous malformation (CCM) Source type: large scale study | |||||||
rs1278724570 | 129 | C>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.102) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.92236513A>G Codon: TGC/CGC Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92236513A>G Locations: - p.Cys129Arg (Ensembl:ENST00000691239) - c.385T>C (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
RCV001256126 RCV002227513 rs764760437 | 129 | C>Y | Cerebral cavernous malformation (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.331) - SIFT: tolerated (0.05) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000007.14:g.92236512C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92236512C>T Locations: - p.Cys129Tyr (Ensembl:ENST00000691239) - c.386G>A (Ensembl:ENST00000691239) Disease association: - Cerebral cavernous malformation (CCM) Source type: large scale study Cross-references: | |||||||
rs776803161 | 130 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92236510G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92236510G>A Locations: - p.Pro130Ser (Ensembl:ENST00000691239) - c.388C>T (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs762248954 | 131 | I>F | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.105) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000007.14:g.92236507T>A Codon: ATT/TTT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92236507T>A Locations: - p.Ile131Phe (Ensembl:ENST00000691239) - c.391A>T (Ensembl:ENST00000691239) Source type: large scale study | |||||||
RCV000721884 rs762248954 | 131 | I>V | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.25) Somatic: No Population frequencies: - MAF: 0.00005 (ClinVar) Accession: NC_000007.14:g.92236507T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92236507T>C Locations: - p.Ile131Val (Ensembl:ENST00000691239) - c.391A>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1326222585 | 135 | L>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.06) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000007.14:g.92236493T>A, NC_000007.14:g.92236493T>G Codon: TTA/TTT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92236493T>A, NC_000007.14:g.92236493T>G Locations: - p.Leu135Phe (Ensembl:ENST00000691239) - c.405A>T (Ensembl:ENST00000691239) - c.405A>C (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
CA253586 RCV000006079 RCV001822994 rs137853139 | 137 | D>G | Cerebral cavernous malformation 1 (ClinVar) Cerebral cavernous malformation (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.974) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000007.14:g.92236488T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92236488T>C Locations: - p.Asp137Gly (Ensembl:ENST00000691239) - c.410A>G (Ensembl:ENST00000691239) Disease association: - Cerebral cavernous malformation (CCM) - Cerebral cavernous malformation 1 Source type: large scale study Cross-references: | |||||||
rs137853139 | 137 | D>V | Pathogenic (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92236488T>A Codon: GAT/GTT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92236488T>A Locations: - p.Asp137Val (Ensembl:ENST00000691239) - c.410A>T (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
CA368162422 CS108376 RCV000524002 RCV001046152 rs1172939308 | 138 | I>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Cerebral cavernous malformation (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA) | ClinGen NCI-TCGA ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.801) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00001194 (gnomAD) - MAF: 0.00001 (ClinVar) Accession: NC_000007.14:g.92236485A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92236485A>G Locations: - p.Ile138Thr (Ensembl:ENST00000691239) - c.413T>C (Ensembl:ENST00000691239) Disease association: - Cerebral cavernous malformation (CCM) Source type: large scale study Cross-references: - NCI-TCGA: CS108376 | |||||||
rs764480666 | 138 | I>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.194) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000007.14:g.92236486T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92236486T>C Locations: - p.Ile138Val (Ensembl:ENST00000691239) - c.412A>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1234266774 | 139 | M>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.319) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000007.14:g.92236481C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92236481C>T Locations: - p.Met139Ile (Ensembl:ENST00000691239) - c.417G>A (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
CM1413284 COSV60669239 RCV000721885 rs866982998 | 140 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | Pathogenic (Ensembl, ClinVar, NCI-TCGA) | NCI-TCGA cosmic curated ClinVar dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.000003982 (gnomAD) - MAF: 0 (ClinVar) Accession: NC_000007.14:g.92236480G>A Codon: CGA/TGA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92236480G>A Locations: - p.Arg140Ter (Ensembl:ENST00000691239) - c.418C>T (Ensembl:ENST00000691239) Source type: large scale study Cross-references: - NCI-TCGA: CM1413284 | |||||||
RCV002013414 rs2131675934 | 141 | V>I | Cerebral cavernous malformation (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.726) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.92236477C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92236477C>T Locations: - p.Val141Ile (Ensembl:ENST00000691239) - c.421G>A (Ensembl:ENST00000691239) Disease association: - Cerebral cavernous malformation (CCM) Source type: large scale study | |||||||
rs972763459 | 142 | C>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.954) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92236473C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92236473C>T Locations: - p.Cys142Tyr (Ensembl:ENST00000691239) - c.425G>A (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs775749438 | 143 | S>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.58) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.92236471T>C Codon: AGT/GGT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92236471T>C Locations: - p.Ser143Gly (Ensembl:ENST00000691239) - c.427A>G (Ensembl:ENST00000691239) Source type: large scale study | |||||||
rs938557580 | 146 | S>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.556) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000007.14:g.92236461C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92236461C>T Locations: - p.Ser146Asn (Ensembl:ENST00000691239) - c.437G>A (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs555883255 | 147 | T>A | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000007.14:g.92236459T>C Codon: ACT/GCT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92236459T>C Locations: - p.Thr147Ala (Ensembl:ENST00000691239) - c.439A>G (Ensembl:ENST00000691239) Source type: large scale study | |||||||
rs145272953 | 147 | T>I | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000007.14:g.92236458G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92236458G>A Locations: - p.Thr147Ile (Ensembl:ENST00000691239) - c.440C>T (Ensembl:ENST00000691239) Source type: large scale study | |||||||
RCV001880580 rs2131675658 | 148 | H>R | Cerebral cavernous malformation (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.58) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92236455T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92236455T>C Locations: - p.His148Arg (Ensembl:ENST00000691239) - c.443A>G (Ensembl:ENST00000691239) Disease association: - Cerebral cavernous malformation (CCM) Source type: large scale study | |||||||
rs1798449774 | 149 | F>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.867) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92236453A>T Codon: TTT/ATT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92236453A>T Locations: - p.Phe149Ile (Ensembl:ENST00000691239) - c.445T>A (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
CA4339380 RCV000548648 RCV001158902 rs774330517 | 151 | T>A | Cerebral cavernous malformation (ClinVar) Angiokeratoma corporis diffusum with arteriovenous fistulas (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.035) - SIFT: tolerated (0.22) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000007.14:g.92236447T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92236447T>C Locations: - p.Thr151Ala (Ensembl:ENST00000691239) - c.451A>G (Ensembl:ENST00000691239) Disease association: - Angiokeratoma corporis diffusum with arteriovenous fistulas - Cerebral cavernous malformation (CCM) Source type: large scale study | |||||||
rs1244766380 | 151 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.093) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.92236446G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92236446G>A Locations: - p.Thr151Ile (Ensembl:ENST00000691239) - c.452C>T (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs770998275 | 152 | L>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.92236444G>C Codon: CTT/GTT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92236444G>C Locations: - p.Leu152Val (Ensembl:ENST00000691239) - c.454C>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1307841375 | 153 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.65) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92236441T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92236441T>C Locations: - p.Thr153Ala (Ensembl:ENST00000691239) - c.457A>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs537211074 | 153 | T>R | 1000Genomes ExAC | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.963) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92236440G>C Codon: ACA/AGA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92236440G>C Locations: - p.Thr153Arg (Ensembl:ENST00000691239) - c.458C>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs754876157 | 154 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.201) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000007.14:g.92236438C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92236438C>T Locations: - p.Ala154Thr (Ensembl:ENST00000691239) - c.460G>A (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs2131675241 | 156 | M>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.475) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.92236430C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92236430C>T Locations: - p.Met156Ile (Ensembl:ENST00000691239) - c.468G>A (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1584988780 | 156 | M>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000007.14:g.92236432T>A Codon: ATG/TTG Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92236432T>A Locations: - p.Met156Leu (Ensembl:ENST00000691239) - c.466A>T (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1798441999 | 159 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000007.14:g.92236422G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92236422G>A Locations: - p.Ala159Val (Ensembl:ENST00000691239) - c.476C>T (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1349486073 | 160 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.923) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92236420A>C Codon: TTG/GTG Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92236420A>C Locations: - p.Leu160Val (Ensembl:ENST00000691239) - c.478T>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
RCV000690923 RCV001545010 rs1563309238 | 161 | D>G | Cerebral cavernous malformation (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.785) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92236416T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92236416T>C Locations: - p.Asp161Gly (Ensembl:ENST00000691239) - c.482A>G (Ensembl:ENST00000691239) Disease association: - Cerebral cavernous malformation (CCM) Source type: large scale study Cross-references: | |||||||
rs1798440361 | 161 | D>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.231) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92236417C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92236417C>T Locations: - p.Asp161Asn (Ensembl:ENST00000691239) - c.481G>A (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1264517779 | 162 | K>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.102) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000007.14:g.92236413T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92236413T>C Locations: - p.Lys162Arg (Ensembl:ENST00000691239) - c.485A>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
COSV60669563 RCV000760856 rs1563307239 | 163 | W>* | Likely pathogenic (Ensembl, ClinVar) | cosmic curated ClinVar Ensembl dbSNP | |||
Consequence: missense Somatic: Yes Accession: NC_000007.14:g.92235643C>T Codon: TGG/TGA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235643C>T Locations: - p.Trp163Ter (Ensembl:ENST00000691239) - c.489G>A (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
RCV000721887 rs1563307254 | 163 | W>* | Likely pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Somatic: No Accession: NC_000007.14:g.92235644C>T Codon: TGG/TAG Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235644C>T Locations: - p.Trp163Ter (Ensembl:ENST00000691239) - c.488G>A (Ensembl:ENST00000691239) Source type: large scale study | |||||||
rs1584983198 | 163 | W>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.983) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.92235645A>C Codon: TGG/GGG Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235645A>C Locations: - p.Trp163Gly (Ensembl:ENST00000691239) - c.487T>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
RCV001838843 rs2131664007 | 164 | L>F | Cerebral cavernous malformation (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92235640T>A Codon: TTA/TTT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235640T>A Locations: - p.Leu164Phe (Ensembl:ENST00000691239) - c.492A>T (Ensembl:ENST00000691239) Disease association: - Cerebral cavernous malformation (CCM) Source type: large scale study | |||||||
RCV001864267 rs1739707829 | 164 | L>S | Cerebral cavernous malformation (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.966) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000007.14:g.92235641A>G Codon: TTA/TCA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235641A>G Locations: - p.Leu164Ser (Ensembl:ENST00000691239) - c.491T>C (Ensembl:ENST00000691239) Disease association: - Cerebral cavernous malformation (CCM) Source type: large scale study | |||||||
rs1584983107 | 164 | L>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.924) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92235642A>C Codon: TTA/GTA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235642A>C Locations: - p.Leu164Val (Ensembl:ENST00000691239) - c.490T>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs780013006 | 165 | D>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.92235637A>C Codon: GAT/GAG Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235637A>C Locations: - p.Asp165Glu (Ensembl:ENST00000691239) - c.495T>G (Ensembl:ENST00000691239) Source type: large scale study | |||||||
rs1218571578 | 165 | D>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.155) - SIFT: tolerated (0.56) Somatic: No Accession: NC_000007.14:g.92235639C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235639C>T Locations: - p.Asp165Asn (Ensembl:ENST00000691239) - c.493G>A (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
RCV001301951 RCV001785808 rs35350895 | 167 | R>C | Cerebral cavernous malformation (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.801) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000007.14:g.92235633G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235633G>A Locations: - p.Arg167Cys (Ensembl:ENST00000691239) - c.499C>T (Ensembl:ENST00000691239) Disease association: - Cerebral cavernous malformation (CCM) Source type: large scale study Cross-references: | |||||||
CA161911064 RCV000524804 rs374246090 | 167 | R>H | Cerebral cavernous malformation (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.67) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000007.14:g.92235632C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235632C>T Locations: - p.Arg167His (Ensembl:ENST00000691239) - c.500G>A (Ensembl:ENST00000691239) Disease association: - Cerebral cavernous malformation (CCM) Source type: large scale study Cross-references: | |||||||
rs1160176604 | 168 | H>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.102) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92235629T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235629T>C Locations: - p.His168Arg (Ensembl:ENST00000691239) - c.503A>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1485511158 | 169 | A>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.92235626G>C Codon: GCA/GGA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235626G>C Locations: - p.Ala169Gly (Ensembl:ENST00000691239) - c.506C>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1485511158 | 169 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.038) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.92235626G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235626G>A Locations: - p.Ala169Val (Ensembl:ENST00000691239) - c.506C>T (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1418677221 | 170 | Q>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.144) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000007.14:g.92235624G>C Codon: CAA/GAA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235624G>C Locations: - p.Gln170Glu (Ensembl:ENST00000691239) - c.508C>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1179666657 | 174 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.093) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000007.14:g.92235612T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235612T>C Locations: - p.Ile174Val (Ensembl:ENST00000691239) - c.520A>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs778621203 | 175 | P>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.92235609G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235609G>A Locations: - p.Pro175Ser (Ensembl:ENST00000691239) - c.523C>T (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1798272943 | 176 | A>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.913) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000007.14:g.92235605G>C Codon: GCT/GGT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235605G>C Locations: - p.Ala176Gly (Ensembl:ENST00000691239) - c.527C>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1482016687 | 178 | F>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92235600A>G Codon: TTC/CTC Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235600A>G Locations: - p.Phe178Leu (Ensembl:ENST00000691239) - c.532T>C (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
CM022616 COSV60667206 RCV001062410 rs777198867 | 179 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) Cerebral cavernous malformation (ClinVar) | Pathogenic (Ensembl, ClinVar, NCI-TCGA) | NCI-TCGA NCI-TCGA Cosmic cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.000003978 (gnomAD) - MAF: 0.00001 (ClinVar) Accession: NC_000007.14:g.92235597G>A Codon: CGA/TGA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235597G>A Locations: - p.Arg179Ter (Ensembl:ENST00000691239) - c.535C>T (Ensembl:ENST00000691239) Disease association: - Cerebral cavernous malformation (CCM) Source type: large scale study Cross-references: - NCI-TCGA: CM022616 | |||||||
rs756644645 | 179 | R>Q | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000007.14:g.92235596C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235596C>T Locations: - p.Arg179Gln (Ensembl:ENST00000691239) - c.536G>A (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1315889129 | 180 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.805) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92235593G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235593G>A Locations: - p.Pro180Leu (Ensembl:ENST00000691239) - c.539C>T (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs753158632 | 181 | S>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.702) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000007.14:g.92235591A>G Codon: TCT/CCT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235591A>G Locations: - p.Ser181Pro (Ensembl:ENST00000691239) - c.541T>C (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
COSV60666937 COSV60668239 rs1409604560 | 182 | P>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: tolerated (0.48) Somatic: Yes Accession: NC_000007.14:g.92235588G>C Codon: CCT/GCT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235588G>C Locations: - p.Pro182Ala (Ensembl:ENST00000691239) - c.544C>G (Ensembl:ENST00000691239) Source type: large scale study | |||||||
rs1440699483 | 182 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.58) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92235587G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235587G>A Locations: - p.Pro182Leu (Ensembl:ENST00000691239) - c.545C>T (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
COSV60668239 rs1409604560 | 182 | P>S | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.102) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000007.14:g.92235588G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235588G>A Locations: - p.Pro182Ser (Ensembl:ENST00000691239) - c.544C>T (Ensembl:ENST00000691239) Source type: large scale study | |||||||
rs767824987 | 183 | L>P | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.889) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000007.14:g.92235584A>G Codon: CTT/CCT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235584A>G Locations: - p.Leu183Pro (Ensembl:ENST00000691239) - c.548T>C (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
RCV002252829 rs1161802228 | 183 | L>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: tolerated (0.43) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000007.14:g.92235585G>C Codon: CTT/GTT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235585G>C Locations: - p.Leu183Val (Ensembl:ENST00000691239) - c.547C>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1294145791 | 185 | R>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.975) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92235578C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235578C>T Locations: - p.Arg185Gln (Ensembl:ENST00000691239) - c.554G>A (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs534952866 | 185 | R>W | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92235579G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235579G>A Locations: - p.Arg185Trp (Ensembl:ENST00000691239) - c.553C>T (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1396810902 | 186 | I>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.072) - SIFT: tolerated (0.6) Somatic: No Accession: NC_000007.14:g.92235576T>C Codon: ATA/GTA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235576T>C Locations: - p.Ile186Val (Ensembl:ENST00000691239) - c.556A>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1798261935 | 188 | T>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.397) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.92235570T>G Codon: ACT/CCT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235570T>G Locations: - p.Thr188Pro (Ensembl:ENST00000691239) - c.562A>C (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1293261828 | 191 | I>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.053) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000007.14:g.92235560A>T Codon: ATA/AAA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235560A>T Locations: - p.Ile191Lys (Ensembl:ENST00000691239) - c.572T>A (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1293261828 | 191 | I>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.105) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000007.14:g.92235560A>C Codon: ATA/AGA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235560A>C Locations: - p.Ile191Arg (Ensembl:ENST00000691239) - c.572T>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1798261012 | 191 | I>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.51) Somatic: No Accession: NC_000007.14:g.92235561T>C Codon: ATA/GTA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235561T>C Locations: - p.Ile191Val (Ensembl:ENST00000691239) - c.571A>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1798259918 | 193 | P>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92235554G>C Codon: CCT/CGT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235554G>C Locations: - p.Pro193Arg (Ensembl:ENST00000691239) - c.578C>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1798259478 | 194 | A>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92235552C>G Codon: GCA/CCA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235552C>G Locations: - p.Ala194Pro (Ensembl:ENST00000691239) - c.580G>C (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
COSV60669788 RCV000875065 rs549707288 | 196 | A>G | Cerebral cavernous malformation (ClinVar) | Likely benign (Ensembl, ClinVar) | cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.35) Somatic: Yes Population frequencies: - MAF: 0.0004 (ClinVar) Accession: NC_000007.14:g.92235545G>C Codon: GCT/GGT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235545G>C Locations: - p.Ala196Gly (Ensembl:ENST00000691239) - c.587C>G (Ensembl:ENST00000691239) Disease association: - Cerebral cavernous malformation (CCM) Source type: large scale study | |||||||
COSV60671463 rs140396626 | 197 | T>A | Likely benign (Ensembl) | cosmic curated ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.65) Somatic: Yes Accession: NC_000007.14:g.92235543T>C Codon: ACT/GCT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235543T>C Locations: - p.Thr197Ala (Ensembl:ENST00000691239) - c.589A>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
RCV002007450 rs2131662647 | 199 | S>* | Cerebral cavernous malformation (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000007.14:g.92235536G>C Codon: TCA/TGA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235536G>C Locations: - p.Ser199Ter (Ensembl:ENST00000691239) - c.596C>G (Ensembl:ENST00000691239) Disease association: - Cerebral cavernous malformation (CCM) Source type: large scale study | |||||||
rs1563306362 | 200 | G>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000007.14:g.92235534C>T Codon: GGT/AGT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235534C>T Locations: - p.Gly200Ser (Ensembl:ENST00000691239) - c.598G>A (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
CA253589 RCV000006080 RCV000522732 RCV003522917 rs137853140 | 201 | Q>E | Cerebral cavernous malformation 1 (ClinVar) Cerebral cavernous malformation (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.038) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.92235531G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235531G>C Locations: - p.Gln201Glu (Ensembl:ENST00000691239) - c.601C>G (Ensembl:ENST00000691239) Disease association: - Cerebral cavernous malformation (CCM) - Cerebral cavernous malformation 1 Source type: large scale study Cross-references: | |||||||
rs1003296878 | 201 | Q>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.53) Somatic: No Accession: NC_000007.14:g.92235530T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235530T>C Locations: - p.Gln201Arg (Ensembl:ENST00000691239) - c.602A>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1584982106 | 202 | T>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.14) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000007.14:g.92235527G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235527G>A Locations: - p.Thr202Ile (Ensembl:ENST00000691239) - c.605C>T (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs760742758 | 205 | S>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000007.14:g.92235518G>A Codon: TCA/TTA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235518G>A Locations: - p.Ser205Leu (Ensembl:ENST00000691239) - c.614C>T (Ensembl:ENST00000691239) Source type: large scale study | |||||||
rs751216702 | 208 | M>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.431) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000007.14:g.92235508C>G Codon: ATG/ATC Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235508C>G Locations: - p.Met208Ile (Ensembl:ENST00000691239) - c.624G>C (Ensembl:ENST00000691239) Source type: large scale study | |||||||
rs1187162691 | 208 | M>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.431) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000007.14:g.92235509A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235509A>G Locations: - p.Met208Thr (Ensembl:ENST00000691239) - c.623T>C (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1316230725 | 209 | G>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.946) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000007.14:g.92235506C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235506C>T Locations: - p.Gly209Asp (Ensembl:ENST00000691239) - c.626G>A (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1245901598 | 209 | G>S | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.913) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000007.14:g.92235507C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235507C>T Locations: - p.Gly209Ser (Ensembl:ENST00000691239) - c.625G>A (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
RCV001946101 rs2131662142 | 210 | Y>* | Cerebral cavernous malformation (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.92235503dup Codon: TAT/TAAT Consequence type: stop gained Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235503dup Locations: - p.Tyr210Ter (Ensembl:ENST00000691239) - c.629dup (Ensembl:ENST00000691239) Disease association: - Cerebral cavernous malformation (CCM) Source type: large scale study | |||||||
rs1219369614 | 212 | A>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.058) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92235498C>A Codon: GCA/TCA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235498C>A Locations: - p.Ala212Ser (Ensembl:ENST00000691239) - c.634G>T (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1219369614 | 212 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.263) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.92235498C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235498C>T Locations: - p.Ala212Thr (Ensembl:ENST00000691239) - c.634G>A (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1318622179 | 212 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.035) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92235497G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235497G>A Locations: - p.Ala212Val (Ensembl:ENST00000691239) - c.635C>T (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1186531721 | 213 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.65) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000007.14:g.92235495G>C Codon: CTA/GTA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235495G>C Locations: - p.Leu213Val (Ensembl:ENST00000691239) - c.637C>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1563305931 | 215 | I>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.844) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.92235487T>C Codon: ATA/ATG Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235487T>C Locations: - p.Ile215Met (Ensembl:ENST00000691239) - c.645A>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1798247382 | 215 | I>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.889) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92235488A>C Codon: ATA/AGA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235488A>C Locations: - p.Ile215Arg (Ensembl:ENST00000691239) - c.644T>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1245461554 | 215 | I>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000007.14:g.92235489T>C Codon: ATA/GTA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235489T>C Locations: - p.Ile215Val (Ensembl:ENST00000691239) - c.643A>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
RCV000721891 RCV001241793 rs1563305909 | 216 | K>E | Cerebral cavernous malformation (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.556) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000007.14:g.92235486T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235486T>C Locations: - p.Lys216Glu (Ensembl:ENST00000691239) - c.646A>G (Ensembl:ENST00000691239) Disease association: - Cerebral cavernous malformation (CCM) Source type: large scale study Cross-references: | |||||||
rs1798245090 | 216 | K>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000007.14:g.92235484C>G Codon: AAG/AAC Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235484C>G Locations: - p.Lys216Asn (Ensembl:ENST00000691239) - c.648G>C (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1485250105 | 216 | K>R | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.102) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000007.14:g.92235485T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235485T>C Locations: - p.Lys216Arg (Ensembl:ENST00000691239) - c.647A>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs377164418 | 217 | S>C | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.915) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92235483T>A Codon: AGT/TGT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235483T>A Locations: - p.Ser217Cys (Ensembl:ENST00000691239) - c.649A>T (Ensembl:ENST00000691239) Source type: large scale study | |||||||
rs932725628 | 217 | S>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.783) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000007.14:g.92235481A>C Codon: AGT/AGG Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235481A>C Locations: - p.Ser217Arg (Ensembl:ENST00000691239) - c.651T>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs765983609 | 219 | M>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.602) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.92235475C>T, NC_000007.14:g.92235475C>G Codon: ATG/ATA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235475C>T, NC_000007.14:g.92235475C>G Locations: - p.Met219Ile (Ensembl:ENST00000691239) - c.657G>A (Ensembl:ENST00000691239) - c.657G>C (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1798243480 | 219 | M>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.499) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92235477T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235477T>C Locations: - p.Met219Val (Ensembl:ENST00000691239) - c.655A>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs151231929 | 221 | A>G | ESP TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.085) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.92235470G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235470G>C Locations: - p.Ala221Gly (Ensembl:ENST00000691239) - c.662C>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs921298012 | 222 | L>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.867) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92235467A>G Codon: CTA/CCA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235467A>G Locations: - p.Leu222Pro (Ensembl:ENST00000691239) - c.665T>C (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1243296644 | 222 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.92235468G>C Codon: CTA/GTA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235468G>C Locations: - p.Leu222Val (Ensembl:ENST00000691239) - c.664C>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1327383758 | 225 | A>T | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.102) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.92235459C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235459C>T Locations: - p.Ala225Thr (Ensembl:ENST00000691239) - c.673G>A (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1381781810 | 226 | D>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.805) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92235456C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235456C>T Locations: - p.Asp226Asn (Ensembl:ENST00000691239) - c.676G>A (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs113064674 | 227 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.92235452G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235452G>A Locations: - p.Thr227Ile (Ensembl:ENST00000691239) - c.680C>T (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs758736336 | 228 | C>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.544) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.92235449C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235449C>T Locations: - p.Cys228Tyr (Ensembl:ENST00000691239) - c.683G>A (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs748900258 | 229 | I>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.514) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92235446A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235446A>G Locations: - p.Ile229Thr (Ensembl:ENST00000691239) - c.686T>C (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
CA368159661 RCV000578873 rs1554528662 | 230 | Y>* | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | |||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.92235442G>C Codon: TAC/TAG Consequence type: stop gained Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235442G>C Locations: - p.Tyr230Ter (Ensembl:ENST00000691239) - c.690C>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs777288551 | 230 | Y>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.593) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.92235443T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235443T>C Locations: - p.Tyr230Cys (Ensembl:ENST00000691239) - c.689A>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs755603488 | 231 | N>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.94) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92235440T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235440T>C Locations: - p.Asn231Ser (Ensembl:ENST00000691239) - c.692A>G (Ensembl:ENST00000691239) Source type: large scale study | |||||||
rs748697858 | 232 | P>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000007.14:g.92235438G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235438G>A Locations: - p.Pro232Ser (Ensembl:ENST00000691239) - c.694C>T (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs748697858 | 232 | P>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92235438G>T Codon: CCT/ACT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235438G>T Locations: - p.Pro232Thr (Ensembl:ENST00000691239) - c.694C>A (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1456339042 | 233 | L>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.966) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92235433C>A Codon: TTG/TTT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235433C>A Locations: - p.Leu233Phe (Ensembl:ENST00000691239) - c.699G>T (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1162361873 | 233 | L>W | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92235434A>C Codon: TTG/TGG Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235434A>C Locations: - p.Leu233Trp (Ensembl:ENST00000691239) - c.698T>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1798226261 | 235 | G>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92235428C>G Codon: GGA/GCA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235428C>G Locations: - p.Gly235Ala (Ensembl:ENST00000691239) - c.704G>C (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
RCV001919689 rs1563305269 RCV000721894 | 236 | S>* | Cerebral cavernous malformation (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.92235425G>T, NC_000007.14:g.92235425G>C Codon: TCA/TAA Consequence type: stop gained Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235425G>T, NC_000007.14:g.92235425G>C Locations: - p.Ser236Ter (Ensembl:ENST00000691239) - c.707C>A (Ensembl:ENST00000691239) - c.707C>G (Ensembl:ENST00000691239) Disease association: - Cerebral cavernous malformation (CCM) Source type: large scale study Cross-references: | |||||||
rs781721827 | 237 | D>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.651) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.92235423C>G Codon: GAT/CAT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235423C>G Locations: - p.Asp237His (Ensembl:ENST00000691239) - c.709G>C (Ensembl:ENST00000691239) Source type: large scale study | |||||||
RCV000721895 rs1563305220 | 238 | L>F | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.92235420G>A Codon: CTT/TTT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235420G>A Locations: - p.Leu238Phe (Ensembl:ENST00000691239) - c.712C>T (Ensembl:ENST00000691239) Source type: large scale study | |||||||
CA10605352 COSV60666978 RCV000392041 RCV000517670 rs886043300 | 239 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) Cerebral cavernous malformation (ClinVar) | Pathogenic (Ensembl, ClinVar, NCI-TCGA) | ClinGen NCI-TCGA Cosmic cosmic curated ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: Yes Accession: NC_000007.14:g.92235417G>A Codon: CAG/TAG Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235417G>A Locations: - p.Gln239Ter (Ensembl:ENST00000691239) - c.715C>T (Ensembl:ENST00000691239) Disease association: - Cerebral cavernous malformation (CCM) Source type: large scale study | |||||||
rs1405947289 | 239 | Q>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.241) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000007.14:g.92235416T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235416T>C Locations: - p.Gln239Arg (Ensembl:ENST00000691239) - c.716A>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1427444840 | 241 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.948) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.92235411T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235411T>C Locations: - p.Thr241Ala (Ensembl:ENST00000691239) - c.721A>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs755359146 | 243 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.105) - SIFT: tolerated (0.09) Somatic: No Population frequencies: - MAF: 0.0000199 (gnomAD) Accession: NC_000007.14:g.92235404C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235404C>T Locations: - p.Arg243Gln (Ensembl:ENST00000691239) - c.728G>A (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
RCV001754682 rs1387764812 | 243 | R>W | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.968) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000007.14:g.92235405G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92235405G>A Locations: - p.Arg243Trp (Ensembl:ENST00000691239) - c.727C>T (Ensembl:ENST00000691239) Source type: large scale study | |||||||
rs755537100 | 244 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: tolerated - low confidence (0.23) Somatic: No Accession: NC_000007.14:g.92234886C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92234886C>T Locations: - p.Glu244Lys (Ensembl:ENST00000691239) - c.730G>A (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs755537100 | 244 | E>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.057) - SIFT: tolerated - low confidence (0.24) Somatic: No Accession: NC_000007.14:g.92234886C>G Codon: GGA/GCA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92234886C>G Locations: - p.Glu244Gln (Ensembl:ENST00000691239) - c.730G>C (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs904770582 | 245 | L>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.92234882A>C Codon: CTC/CGC Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92234882A>C Locations: - p.Leu245Arg (Ensembl:ENST00000691239) - c.734T>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1241422468 | 246 | Q>* | gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000007.14:g.92234880G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92234880G>A Locations: - p.Gln246Ter (Ensembl:ENST00000691239) - c.736C>T (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs369080774 | 246 | Q>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000007.14:g.92234879T>A Codon: CAG/CTG Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92234879T>A Locations: - p.Gln246Leu (Ensembl:ENST00000691239) - c.737A>T (Ensembl:ENST00000691239) Source type: large scale study | |||||||
rs369080774 | 246 | Q>P | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000007.14:g.92234879T>G Codon: CAG/CCG Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92234879T>G Locations: - p.Gln246Pro (Ensembl:ENST00000691239) - c.737A>C (Ensembl:ENST00000691239) Source type: large scale study | |||||||
rs369080774 | 246 | Q>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.88) Somatic: No Accession: NC_000007.14:g.92234879T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92234879T>C Locations: - p.Gln246Arg (Ensembl:ENST00000691239) - c.737A>G (Ensembl:ENST00000691239) Source type: large scale study | |||||||
rs1307397097 | 248 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.19) Somatic: No Accession: NC_000007.14:g.92234873G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92234873G>A Locations: - p.Thr248Ile (Ensembl:ENST00000691239) - c.743C>T (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
CA368158729 RCV000525590 rs1554527817 | 249 | Q>E | Cerebral cavernous malformation (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000007.14:g.92234871G>C Codon: TCA/TGA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92234871G>C Locations: - p.Gln249Glu (Ensembl:ENST00000691239) - c.745C>G (Ensembl:ENST00000691239) Disease association: - Cerebral cavernous malformation (CCM) Source type: large scale study Cross-references: | |||||||
rs758804410 | 250 | K>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000007.14:g.92234867T>C Codon: AAA/AGA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92234867T>C Locations: - p.Lys250Arg (Ensembl:ENST00000691239) - c.749A>G (Ensembl:ENST00000691239) Source type: large scale study | |||||||
rs1368571975 | 251 | S>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000007.14:g.92234864G>C Codon: ATC/ATG Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92234864G>C Locations: - p.Ser251Cys (Ensembl:ENST00000691239) - c.752C>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1368571975 | 251 | S>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000007.14:g.92234864G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92234864G>A Locations: - p.Ser251Phe (Ensembl:ENST00000691239) - c.752C>T (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
rs1314633842 | 253 | Y>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000007.14:g.92234859A>G Codon: ATA/ACA Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92234859A>G Locations: - p.Tyr253His (Ensembl:ENST00000691239) - c.757T>C (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
CA368158496 RCV000542725 rs1554527779 | 259 | G>S | Cerebral cavernous malformation (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000007.14:g.92234841C>T Codon: TGG/TAG Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92234841C>T Locations: - p.Gly259Ser (Ensembl:ENST00000691239) - c.775G>A (Ensembl:ENST00000691239) Disease association: - Cerebral cavernous malformation (CCM) Source type: large scale study Cross-references: | |||||||
RCV000757424 rs765542241 | 260 | R>G | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Population frequencies: - MAF: 0.00007 (ClinVar) Accession: NC_000007.14:g.92234838T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92234838T>C Locations: - p.Arg260Gly (Ensembl:ENST00000691239) - c.778A>G (Ensembl:ENST00000691239) Source type: large scale study Cross-references: | |||||||
CD104928 COSV60670896 rs1170498982 | 260 | R>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: Yes Population frequencies: - MAF: 0.000007955 (gnomAD) Accession: NC_000007.14:g.92234837C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 7q21.2 Genomic location: NC_000007.14:g.92234837C>G Locations: - p.Arg260Thr (Ensembl:ENST00000691239) - c.779G>C (Ensembl:ENST00000691239) Source type: large scale study Cross-references: - NCI-TCGA: CD104928 |