C9JZR7 · C9JZR7_HUMAN
- ProteinActin beta
- GeneACTB
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids102 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
RCV001254056 rs1784841309 | 2 | D>Y | Baraitser-Winter syndrome 1 (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.874) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.5529654C>A Codon: GAT/TAT Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529654C>A Locations: - p.Asp2Tyr (Ensembl:ENST00000443528) - c.4G>T (Ensembl:ENST00000443528) Disease association: - Baraitser-Winter syndrome 1 (BRWS1) Source type: large scale study | |||||||
RCV001243702 rs1784841235 | 3 | D>F | Baraitser-Winter syndrome 1 (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.944) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.5529650_5529651delinsAA Codon: GAT/TTT Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529650_5529651delinsAA Locations: - p.Asp3Phe (Ensembl:ENST00000443528) - c.7_8delinsTT (Ensembl:ENST00000443528) Disease association: - Baraitser-Winter syndrome 1 (BRWS1) Source type: large scale study | |||||||
COSV100079696 rs1420193633 | 3 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000007.14:g.5529651C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529651C>T Locations: - p.D3N (NCI-TCGA:ENST00000443528) - p.Asp3Asn (Ensembl:ENST00000443528) - c.7G>A (Ensembl:ENST00000443528) Source type: large scale study | |||||||
COSV59318217 rs752528915 | 5 | I>V | cosmic curated 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.57) Somatic: Yes Accession: NC_000007.14:g.5529645T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529645T>C Locations: - p.Ile5Val (Ensembl:ENST00000443528) - c.13A>G (Ensembl:ENST00000443528) Source type: large scale study Cross-references: | |||||||
rs1264083179 | 6 | A>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.084) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.5529641G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529641G>T Locations: - p.Ala6Asp (Ensembl:ENST00000443528) - c.17C>A (Ensembl:ENST00000443528) Source type: large scale study Cross-references: | |||||||
RCV000700089 RCV001255360 rs1562720119 | 7 | A>T | Baraitser-Winter syndrome 1 (ClinVar) Intellectual disability (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.233) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.5529639C>T Codon: GCG/ACG Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529639C>T Locations: - p.Ala7Thr (Ensembl:ENST00000443528) - c.19G>A (Ensembl:ENST00000443528) Disease association: - Baraitser-Winter syndrome 1 (BRWS1) - Intellectual disability Source type: large scale study Cross-references: | |||||||
RCV001533017 rs11546916 | 7 | A>V | ACTB-related BAFopathy (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.5529638G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529638G>A Locations: - p.Ala7Val (Ensembl:ENST00000443528) - c.20C>T (Ensembl:ENST00000443528) Disease association: - ACTB-related BAFopathy Source type: large scale study | |||||||
rs11546895 | 8 | L>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.753) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.5529636G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529636G>A Locations: - p.Leu8Phe (Ensembl:ENST00000443528) - c.22C>T (Ensembl:ENST00000443528) Source type: large scale study Cross-references: | |||||||
rs375171849 | 8 | L>H | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.5529635A>T Codon: CTC/CAC Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529635A>T Locations: - p.Leu8His (Ensembl:ENST00000443528) - c.23T>A (Ensembl:ENST00000443528) Source type: large scale study | |||||||
rs1336840226 | 10 | V>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.23) Somatic: No Accession: NC_000007.14:g.5529630C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529630C>T Locations: - p.Val10Ile (Ensembl:ENST00000443528) - c.28G>A (Ensembl:ENST00000443528) Source type: large scale study Cross-references: | |||||||
VAR_067810 CA219936 RCV000022442 RCV000059719 rs281875331 | 12 | N>D | BRWS1 (UniProt) Baraitser-winter syndrome 1 (brws1) (Ensembl) Baraitser-Winter syndrome 1 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000007.14:g.5529624T>C Codon: AAC/GAC Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529624T>C Locations: - p.Asn12Asp (UniProt:P60709) - p.Asn12Asp (Ensembl:ENST00000443528) - c.34A>G (Ensembl:ENST00000443528) Disease association: - Baraitser-Winter syndrome 1 (BRWS1) - Baraitser-Winter syndrome 1 (BRWS1) Source type: mixed Cross-references: | |||||||
CA345770 RCV000133569 rs281875331 | 12 | N>H | Baraitser-winter syndrome 1 (brws1) (Ensembl) Baraitser-Winter syndrome 1 (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.944) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.5529624T>G Codon: AAC/CAC Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529624T>G Locations: - p.Asn12His (Ensembl:ENST00000443528) - c.34A>C (Ensembl:ENST00000443528) Disease association: - Baraitser-Winter syndrome 1 (BRWS1) Source type: large scale study Cross-references: | |||||||
rs774758441 | 12 | N>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.552) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.5529623T>G Codon: AAC/ACC Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529623T>G Locations: - p.Asn12Thr (Ensembl:ENST00000443528) - c.35A>C (Ensembl:ENST00000443528) Source type: large scale study Cross-references: | |||||||
CA366707172 RCV000642197 rs865913177 | 15 | G>A | Baraitser-Winter syndrome 1 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.683) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.5529614C>G Codon: GGC/GCC Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529614C>G Locations: - p.Gly15Ala (Ensembl:ENST00000443528) - c.44G>C (Ensembl:ENST00000443528) Disease association: - Baraitser-Winter syndrome 1 (BRWS1) Source type: large scale study Cross-references: | |||||||
rs865913177 | 15 | G>D | Variant of uncertain significance (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.917) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.5529614C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529614C>T Locations: - p.Gly15Asp (Ensembl:ENST00000443528) - c.44G>A (Ensembl:ENST00000443528) Source type: large scale study Cross-references: | |||||||
COSV107390869 rs1360359526 | 17 | C>Y | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.831) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000007.14:g.5529608C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529608C>T Locations: - p.Cys17Tyr (Ensembl:ENST00000443528) - c.50G>A (Ensembl:ENST00000443528) Source type: large scale study Cross-references: | |||||||
COSV59316539 RCV001808136 rs536327578 | 20 | G>D | Baraitser-Winter syndrome 1 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar 1000Genomes ExAC dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.279) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000007.14:g.5529599C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529599C>T Locations: - p.Gly20Asp (Ensembl:ENST00000443528) - c.59G>A (Ensembl:ENST00000443528) Disease association: - Baraitser-Winter syndrome 1 (BRWS1) Source type: large scale study | |||||||
rs1162879044 | 21 | F>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.5529596A>G Codon: TTC/TCC Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529596A>G Locations: - p.Phe21Ser (Ensembl:ENST00000443528) - c.62T>C (Ensembl:ENST00000443528) Source type: large scale study Cross-references: | |||||||
CA213198 RCV000116223 rs587780273 | 22 | A>T | Baraitser-Winter syndrome 1 (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000007.14:g.5529594C>T Codon: GCG/ACG Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529594C>T Locations: - p.Ala22Thr (Ensembl:ENST00000443528) - c.64G>A (Ensembl:ENST00000443528) Disease association: - Baraitser-Winter syndrome 1 (BRWS1) Source type: large scale study Cross-references: | |||||||
RCV001533018 rs2128241451 | 24 | D>N | ACTB-related BAFopathy (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.919) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000007.14:g.5529588C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529588C>T Locations: - p.Asp24Asn (Ensembl:ENST00000443528) - c.70G>A (Ensembl:ENST00000443528) Disease association: - ACTB-related BAFopathy Source type: large scale study | |||||||
RCV001171579 rs1784839731 | 25 | D>N | Likely pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.843) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000007.14:g.5529585C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529585C>T Locations: - p.Asp25Asn (Ensembl:ENST00000443528) - c.73G>A (Ensembl:ENST00000443528) Source type: large scale study | |||||||
COSV59316533 COSV59317010 COSV59320272 rs11546929 | 26 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.705) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000007.14:g.5529581G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529581G>A Locations: - p.A26V (NCI-TCGA:ENST00000443528) - p.Ala26Val (Ensembl:ENST00000443528) - c.77C>T (Ensembl:ENST00000443528) Source type: large scale study | |||||||
CA10603043 RCV000354047 RCV000850524 RCV001533044 rs886041270 | 28 | R>G | Baraitser-Winter syndrome 1 (ClinVar) ACTB-related BAFopathy (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.925) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.5529576G>C Codon: CGG/GGG Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529576G>C Locations: - p.Arg28Gly (Ensembl:ENST00000443528) - c.82C>G (Ensembl:ENST00000443528) Disease association: - ACTB-related BAFopathy - Baraitser-Winter syndrome 1 (BRWS1) Source type: large scale study Cross-references: | |||||||
RCV001797036 RCV004552026 rs2128241449 | 28 | R>Q | Baraitser-winter syndrome 1 (brws1) (Ensembl) Baraitser-Winter syndrome 1 (ClinVar) ACTB-related disorder (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.101) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.5529575C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529575C>T Locations: - p.Arg28Gln (Ensembl:ENST00000443528) - c.83G>A (Ensembl:ENST00000443528) Disease association: - ACTB-related disorder - Baraitser-Winter syndrome 1 (BRWS1) Source type: large scale study Cross-references: | |||||||
rs754708628 | 31 | F>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.044) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.5529566A>T Codon: TTC/TAC Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529566A>T Locations: - p.Phe31Tyr (Ensembl:ENST00000443528) - c.92T>A (Ensembl:ENST00000443528) Source type: large scale study Cross-references: | |||||||
COSV106100254 RCV001754950 RCV003444924 RCV003530204 rs779839358 | 32 | P>S | Baraitser-Winter syndrome 1 (ClinVar) Baraitser-Winter syndrome (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | cosmic curated ClinVar ExAC dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000007.14:g.5529564G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529564G>A Locations: - p.Pro32Ser (Ensembl:ENST00000443528) - c.94C>T (Ensembl:ENST00000443528) Disease association: - Baraitser-Winter syndrome - Baraitser-Winter syndrome 1 (BRWS1) Source type: large scale study | |||||||
rs11546921 | 36 | G>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.783) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.5529551C>G Codon: GGG/GCG Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529551C>G Locations: - p.Gly36Ala (Ensembl:ENST00000443528) - c.107G>C (Ensembl:ENST00000443528) Source type: large scale study Cross-references: | |||||||
COSV105237121 rs11546914 | 37 | R>C | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.538) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000007.14:g.5529549G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529549G>A Locations: - p.Arg37Cys (Ensembl:ENST00000443528) - c.109C>T (Ensembl:ENST00000443528) Source type: large scale study Cross-references: | |||||||
CA366706592 RCV000539689 rs1554329646 | 38 | P>L | Baraitser-Winter syndrome 1 (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.913) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.5529545G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529545G>A Locations: - p.Pro38Leu (Ensembl:ENST00000443528) - c.113C>T (Ensembl:ENST00000443528) Disease association: - Baraitser-Winter syndrome 1 (BRWS1) Source type: large scale study Cross-references: | |||||||
RCV001533045 RCV003152765 rs1373863123 | 40 | H>Y | Baraitser-Winter syndrome 1 (ClinVar) ACTB-related BAFopathy (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000007.14:g.5529540G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529540G>A Locations: - p.His40Tyr (Ensembl:ENST00000443528) - c.118C>T (Ensembl:ENST00000443528) Disease association: - ACTB-related BAFopathy - Baraitser-Winter syndrome 1 (BRWS1) Source type: large scale study Cross-references: | |||||||
RCV000681215 RCV001775146 rs1562719872 | 42 | G>S | Baraitser-Winter syndrome 1 (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.878) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.5529400C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529400C>T Locations: - p.Gly42Ser (Ensembl:ENST00000443528) - c.124G>A (Ensembl:ENST00000443528) Disease association: - Baraitser-Winter syndrome 1 (BRWS1) Source type: large scale study Cross-references: | |||||||
CA10603067 RCV000341122 rs886041267 | 43 | V>M | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.071) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.5529397C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529397C>T Locations: - p.Val43Met (Ensembl:ENST00000443528) - c.127G>A (Ensembl:ENST00000443528) Source type: large scale study Cross-references: | |||||||
rs776407365 | 44 | M>I | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.5529392C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529392C>T Locations: - p.Met44Ile (Ensembl:ENST00000443528) - c.132G>A (Ensembl:ENST00000443528) Source type: large scale study | |||||||
rs1784833214 | 46 | G>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.5529387C>G Codon: GGC/GCC Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529387C>G Locations: - p.Gly46Ala (Ensembl:ENST00000443528) - c.137G>C (Ensembl:ENST00000443528) Source type: large scale study Cross-references: | |||||||
COSV59317474 RCV002249227 rs2128241411 | 47 | M>I | Baraitser-Winter syndrome 1 (ClinVar) | Pathogenic (Ensembl, ClinVar) | cosmic curated ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.328) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000007.14:g.5529383C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529383C>T Locations: - p.Met47Ile (Ensembl:ENST00000443528) - c.141G>A (Ensembl:ENST00000443528) Disease association: - Baraitser-Winter syndrome 1 (BRWS1) Source type: large scale study Cross-references: | |||||||
RCV001775429 rs2128241410 | 48 | G>C | Baraitser-Winter syndrome 1 (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.913) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.5529382C>A Codon: GGT/TGT Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529382C>A Locations: - p.Gly48Cys (Ensembl:ENST00000443528) - c.142G>T (Ensembl:ENST00000443528) Disease association: - Baraitser-Winter syndrome 1 (BRWS1) Source type: large scale study | |||||||
CA10602961 RCV000396151 RCV002518807 rs886041268 | 48 | G>D | Baraitser-winter syndrome 1 (brws1) (Ensembl) Baraitser-Winter syndrome 1 (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.66) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.5529381C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529381C>T Locations: - p.Gly48Asp (Ensembl:ENST00000443528) - c.143G>A (Ensembl:ENST00000443528) Disease association: - Baraitser-Winter syndrome 1 (BRWS1) Source type: large scale study Cross-references: | |||||||
COSV107390886 rs1447991396 | 50 | K>R | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.13) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000007.14:g.5529375T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529375T>C Locations: - p.Lys50Arg (Ensembl:ENST00000443528) - c.149A>G (Ensembl:ENST00000443528) Source type: large scale study Cross-references: | |||||||
rs746568210 | 51 | D>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | 1000Genomes ExAC dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.961) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000003979 (gnomAD) Accession: NC_000007.14:g.5529372T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529372T>C Locations: - p.D51G (NCI-TCGA:ENST00000443528) - p.Asp51Gly (Ensembl:ENST00000443528) - c.152A>G (Ensembl:ENST00000443528) Source type: large scale study Cross-references: | |||||||
CA10603032 COSV59319971 RCV000261544 rs886041271 | 52 | S>F | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.831) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000007.14:g.5529369G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529369G>A Locations: - p.Ser52Phe (Ensembl:ENST00000443528) - c.155C>T (Ensembl:ENST00000443528) Source type: large scale study Cross-references: | |||||||
RCV001560300 RCV002495893 rs2128241408 | 53 | Y>C | Baraitser-Winter syndrome 1 (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.5529366T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529366T>C Locations: - p.Tyr53Cys (Ensembl:ENST00000443528) - c.158A>G (Ensembl:ENST00000443528) Disease association: - Baraitser-Winter syndrome 1 (BRWS1) - Developmental malformations-deafness-dystonia syndrome (DDS1) Source type: large scale study Cross-references: | |||||||
COSV59321273 RCV001200525 rs1584263049 | 56 | D>N | Likely pathogenic (Ensembl, ClinVar) | cosmic curated ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000007.14:g.5529358C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529358C>T Locations: - p.Asp56Asn (Ensembl:ENST00000443528) - c.166G>A (Ensembl:ENST00000443528) Source type: large scale study Cross-references: | |||||||
RCV001780052 rs1584263049 | 56 | D>Y | Neurodevelopmental disorder (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.945) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.5529358C>A Codon: GAC/TAC Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529358C>A Locations: - p.Asp56Tyr (Ensembl:ENST00000443528) - c.166G>T (Ensembl:ENST00000443528) Disease association: - Neurodevelopmental disorder Source type: large scale study | |||||||
RCV001266308 rs1784832645 | 57 | E>A | Inborn genetic diseases (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.826) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.5529354T>G Codon: GAG/GCG Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529354T>G Locations: - p.Glu57Ala (Ensembl:ENST00000443528) - c.170A>C (Ensembl:ENST00000443528) Disease association: - Inborn genetic diseases Source type: large scale study | |||||||
RCV001249484 rs1784832575 | 58 | A>V | Intellectual disability (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.5529351G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529351G>A Locations: - p.Ala58Val (Ensembl:ENST00000443528) - c.173C>T (Ensembl:ENST00000443528) Disease association: - Intellectual disability Source type: large scale study | |||||||
RCV000790625 rs755437923 | 60 | S>N | Microcephaly (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinVar 1000Genomes ExAC dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.5529345C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529345C>T Locations: - p.Ser60Asn (Ensembl:ENST00000443528) - c.179G>A (Ensembl:ENST00000443528) Disease association: - Microcephaly Source type: large scale study Cross-references: | |||||||
rs755437923 | 60 | S>T | Likely pathogenic (Ensembl) | 1000Genomes ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.23) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.5529345C>G Codon: AGC/ACC Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529345C>G Locations: - p.Ser60Thr (Ensembl:ENST00000443528) - c.179G>C (Ensembl:ENST00000443528) Source type: large scale study | |||||||
CA213204 CM122510 CM151355 COSV100079766 RCV000133564 RCV001249485 RCV002293418 rs281875332 | 65 | L>F | Baraitser-winter syndrome 1 (brws1) (Ensembl) Baraitser-Winter syndrome 1 (ClinVar) Intellectual disability (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Pathogenic (Ensembl, ClinVar, NCI-TCGA) | ClinGen NCI-TCGA NCI-TCGA Cosmic cosmic curated ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000007.14:g.5529331G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529331G>A Locations: - p.L65F (NCI-TCGA:ENST00000443528) - p.Leu65Phe (Ensembl:ENST00000443528) - c.193C>T (Ensembl:ENST00000443528) Disease association: - Baraitser-Winter syndrome 1 (BRWS1) - Intellectual disability Source type: large scale study Cross-references: - NCI-TCGA: CM122510 - NCI-TCGA: CM151355 | |||||||
VAR_067811 CA219934 RCV000022441 RCV000059718 rs281875332 | 65 | L>V | BRWS1 (UniProt) Baraitser-winter syndrome 1 (brws1) (Ensembl) Baraitser-Winter syndrome 1 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000007.14:g.5529331G>C Codon: CTC/GTC Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529331G>C Locations: - p.Leu65Val (UniProt:P60709) - p.Leu65Val (Ensembl:ENST00000443528) - c.193C>G (Ensembl:ENST00000443528) Disease association: - Baraitser-Winter syndrome 1 (BRWS1) - Baraitser-Winter syndrome 1 (BRWS1) Source type: mixed Cross-references: | |||||||
rs11546904 | 68 | K>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.415) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.5529322T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529322T>C Locations: - p.Lys68Glu (Ensembl:ENST00000443528) - c.202A>G (Ensembl:ENST00000443528) Source type: large scale study Cross-references: | |||||||
COSV59320776 rs11546912 | 69 | Y>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000007.14:g.5529318T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529318T>C Locations: - p.Y69C (NCI-TCGA:ENST00000443528) - p.Tyr69Cys (Ensembl:ENST00000443528) - c.206A>G (Ensembl:ENST00000443528) Source type: large scale study | |||||||
rs11546912 | 69 | Y>F | 1000Genomes ExAC | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.5529318T>A Codon: TAC/TTC Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529318T>A Locations: - p.Tyr69Phe (Ensembl:ENST00000443528) - c.206A>T (Ensembl:ENST00000443528) Source type: large scale study Cross-references: | |||||||
rs1784832134 | 69 | Y>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.5529319A>G Codon: TAC/CAC Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529319A>G Locations: - p.Tyr69His (Ensembl:ENST00000443528) - c.205T>C (Ensembl:ENST00000443528) Source type: large scale study Cross-references: | |||||||
RCV001027982 rs587779769 | 70 | P>H | Baraitser-winter syndrome 1 (brws1) (Ensembl) Baraitser-Winter syndrome 1 (ClinVar) | Pathogenic (Ensembl) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.5529315G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529315G>T Locations: - p.Pro70His (Ensembl:ENST00000443528) - c.209C>A (Ensembl:ENST00000443528) Disease association: - Baraitser-Winter syndrome 1 (BRWS1) Source type: large scale study | |||||||
CA213207 RCV000133565 RCV001268259 rs587779769 | 70 | P>L | Baraitser-winter syndrome 1 (brws1) (Ensembl) Baraitser-Winter syndrome 1 (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.184) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.5529315G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529315G>A Locations: - p.Pro70Leu (Ensembl:ENST00000443528) - c.209C>T (Ensembl:ENST00000443528) Disease association: - Baraitser-Winter syndrome 1 (BRWS1) Source type: large scale study Cross-references: | |||||||
rs11546913 | 70 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.977) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.5529316G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529316G>A Locations: - p.Pro70Ser (Ensembl:ENST00000443528) - c.208C>T (Ensembl:ENST00000443528) Source type: large scale study Cross-references: | |||||||
COSV59320719 RCV001733376 rs752744378 | 71 | I>M | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.452) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000007.14:g.5529311G>C Codon: ATC/ATG Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529311G>C Locations: - p.Ile71Met (Ensembl:ENST00000443528) - c.213C>G (Ensembl:ENST00000443528) Source type: large scale study Cross-references: | |||||||
CA366704917 RCV000493017 RCV003313084 rs1131691341 | 72 | E>G | Baraitser-Winter syndrome 1 (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.976) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000007.14:g.5529309T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529309T>C Locations: - p.Glu72Gly (Ensembl:ENST00000443528) - c.215A>G (Ensembl:ENST00000443528) Disease association: - Baraitser-Winter syndrome 1 (BRWS1) Source type: large scale study Cross-references: | |||||||
CA236277 COSV59320965 RCV000171405 rs786205585 | 73 | H>D | Pathogenic (Ensembl) | ClinGen cosmic curated ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000007.14:g.5529307G>C Codon: CAC/GAC Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529307G>C Locations: - p.His73Asp (Ensembl:ENST00000443528) - c.217C>G (Ensembl:ENST00000443528) Source type: large scale study Cross-references: | |||||||
CA366704905 RCV000623591 RCV002274073 rs786205585 | 73 | H>Y | Baraitser-Winter syndrome 1 (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.839) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.5529307G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529307G>A Locations: - p.His73Tyr (Ensembl:ENST00000443528) - c.217C>T (Ensembl:ENST00000443528) Disease association: - Baraitser-Winter syndrome 1 (BRWS1) Source type: large scale study Cross-references: | |||||||
CA345767 RCV000133566 RCV000327760 rs587779770 | 74 | G>S | Baraitser-winter syndrome 1 (brws1) (Ensembl) Baraitser-Winter syndrome 1 (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.279) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.5529304C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529304C>T Locations: - p.Gly74Ser (Ensembl:ENST00000443528) - c.220G>A (Ensembl:ENST00000443528) Disease association: - Baraitser-Winter syndrome 1 (BRWS1) Source type: large scale study Cross-references: | |||||||
RCV001196388 rs759412044 | 75 | I>M | Baraitser-Winter syndrome 1 (ClinVar) | Likely benign (Ensembl) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.5529299G>C Codon: ATC/ATG Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529299G>C Locations: - p.Ile75Met (Ensembl:ENST00000443528) - c.225C>G (Ensembl:ENST00000443528) Disease association: - Baraitser-Winter syndrome 1 (BRWS1) Source type: large scale study Cross-references: | |||||||
CA213210 RCV000133567 RCV000519582 rs587779771 | 75 | I>T | Baraitser-winter syndrome 1 (brws1) (Ensembl) Baraitser-Winter syndrome 1 (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.5529300A>G Codon: ATC/ACC Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529300A>G Locations: - p.Ile75Thr (Ensembl:ENST00000443528) - c.224T>C (Ensembl:ENST00000443528) Disease association: - Baraitser-Winter syndrome 1 (BRWS1) Source type: large scale study Cross-references: | |||||||
RCV002016254 rs2128241399 | 80 | D>E | Baraitser-Winter syndrome 1 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.156) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.5529284G>C Codon: GAC/GAG Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529284G>C Locations: - p.Asp80Glu (Ensembl:ENST00000443528) - c.240C>G (Ensembl:ENST00000443528) Disease association: - Baraitser-Winter syndrome 1 (BRWS1) Source type: large scale study | |||||||
rs1476189720 | 84 | K>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.5529273T>G Codon: AAA/ACA Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529273T>G Locations: - p.Lys84Thr (Ensembl:ENST00000443528) - c.251A>C (Ensembl:ENST00000443528) Source type: large scale study Cross-references: | |||||||
RCV001293990 rs1784831364 | 86 | W>* | Developmental malformations-deafness-dystonia syndrome (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.5529267C>T Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529267C>T Locations: - p.Trp86Ter (Ensembl:ENST00000443528) - c.257G>A (Ensembl:ENST00000443528) Disease association: - Developmental malformations-deafness-dystonia syndrome (DDS1) Source type: large scale study | |||||||
CA366704583 COSV100079353 RCV000520817 rs1554329554 | 86 | W>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Likely pathogenic (Ensembl, ClinVar, NCI-TCGA) | ClinGen NCI-TCGA Cosmic cosmic curated ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000007.14:g.5529266C>G Codon: TGG/TGC Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529266C>G Locations: - p.W86C (NCI-TCGA:ENST00000443528) - p.Trp86Cys (Ensembl:ENST00000443528) - c.258G>C (Ensembl:ENST00000443528) Source type: large scale study | |||||||
CA366704576 RCV000622733 rs1554329552 | 87 | H>D | Inborn genetic diseases (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.5529265G>C Codon: CAC/GAC Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529265G>C Locations: - p.His87Asp (Ensembl:ENST00000443528) - c.259C>G (Ensembl:ENST00000443528) Disease association: - Inborn genetic diseases Source type: large scale study Cross-references: | |||||||
RCV001758190 rs1554329552 | 87 | H>Y | Pathogenic (Ensembl) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000007.14:g.5529265G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529265G>A Locations: - p.His87Tyr (Ensembl:ENST00000443528) - c.259C>T (Ensembl:ENST00000443528) Source type: large scale study | |||||||
rs2128241397 | 88 | H>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.5529262G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529262G>A Locations: - p.His88Tyr (Ensembl:ENST00000443528) - c.262C>T (Ensembl:ENST00000443528) Source type: large scale study Cross-references: | |||||||
rs1784831166 | 90 | F>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.418) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.5529256A>G Codon: TTC/CTC Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529256A>G Locations: - p.Phe90Leu (Ensembl:ENST00000443528) - c.268T>C (Ensembl:ENST00000443528) Source type: large scale study Cross-references: | |||||||
rs772711453 | 92 | N>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.141) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000007.14:g.5529248A>C Codon: AAT/AAG Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529248A>C Locations: - p.Asn92Lys (Ensembl:ENST00000443528) - c.276T>G (Ensembl:ENST00000443528) Source type: large scale study | |||||||
RCV001262630 rs1784830795 | 92 | N>S | Baraitser-Winter syndrome 1 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.554) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000007.14:g.5529249T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529249T>C Locations: - p.Asn92Ser (Ensembl:ENST00000443528) - c.275A>G (Ensembl:ENST00000443528) Disease association: - Baraitser-Winter syndrome 1 (BRWS1) Source type: large scale study | |||||||
RCV001973653 rs2128241393 | 96 | V>L | Baraitser-Winter syndrome 1 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.059) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.5529238C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529238C>A Locations: - p.Val96Leu (Ensembl:ENST00000443528) - c.286G>T (Ensembl:ENST00000443528) Disease association: - Baraitser-Winter syndrome 1 (BRWS1) Source type: large scale study | |||||||
rs17851374 | 97 | A>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.855) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.5529235C>G Codon: GCT/CCT Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529235C>G Locations: - p.Ala97Pro (Ensembl:ENST00000443528) - c.289G>C (Ensembl:ENST00000443528) Source type: large scale study Cross-references: | |||||||
rs2128241392 | 97 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.636) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000007.14:g.5529234G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529234G>A Locations: - p.Ala97Val (Ensembl:ENST00000443528) - c.290C>T (Ensembl:ENST00000443528) Source type: large scale study Cross-references: | |||||||
COSV100079682 rs11546910 | 98 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000007.14:g.5529232G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529232G>A Locations: - p.P98S (NCI-TCGA:ENST00000443528) - p.Pro98Ser (Ensembl:ENST00000443528) - c.292C>T (Ensembl:ENST00000443528) Source type: large scale study Cross-references: | |||||||
COSV59317914 rs1341717668 | 101 | H>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.641) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Accession: NC_000007.14:g.5529222T>C Codon: CAC/CGC Consequence type: missense Cytogenetic band: 7p22.1 Genomic location: NC_000007.14:g.5529222T>C Locations: - p.H101R (NCI-TCGA:ENST00000443528) - p.His101Arg (Ensembl:ENST00000443528) - c.302A>G (Ensembl:ENST00000443528) Source type: large scale study |