C9JEC9 · C9JEC9_HUMAN
- ProteinTBL1X/Y related 1
- GeneTBL1XR1
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
RCV000807759 rs1577062828 | 6 | D>G | Pierpont syndrome (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.177064961T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: 3q26.32 Genomic location: NC_000003.12:g.177064961T>C Locations: - p.Asp6Gly (Ensembl:ENST00000443315) - c.17A>G (Ensembl:ENST00000443315) Disease association: - Pierpont syndrome (PRPTS) Source type: large scale study | |||||||
RCV001210012 RCV004548061 rs1718967303 | 10 | F>L | Pierpont syndrome (ClinVar) TBL1XR1-related disorder (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.525) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.177064950A>G Codon: TTC/CTC Consequence type: missense Cytogenetic band: 3q26.32 Genomic location: NC_000003.12:g.177064950A>G Locations: - p.Phe10Leu (Ensembl:ENST00000443315) - c.28T>C (Ensembl:ENST00000443315) Disease association: - Pierpont syndrome (PRPTS) - TBL1XR1-related disorder Source type: large scale study Cross-references: | |||||||
RCV001897037 rs1405162373 | 13 | Y>C | Pierpont syndrome (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.177064940T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 3q26.32 Genomic location: NC_000003.12:g.177064940T>C Locations: - p.Tyr13Cys (Ensembl:ENST00000443315) - c.38A>G (Ensembl:ENST00000443315) Disease association: - Pierpont syndrome (PRPTS) Source type: large scale study Cross-references: | |||||||
rs1405162373 | 13 | Y>F | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.975) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.177064940T>A Codon: TAT/TTT Consequence type: missense Cytogenetic band: 3q26.32 Genomic location: NC_000003.12:g.177064940T>A Locations: - p.Tyr13Phe (Ensembl:ENST00000443315) - c.38A>T (Ensembl:ENST00000443315) Source type: large scale study Cross-references: | |||||||
RCV001291683 RCV001291684 rs1718965342 | 14 | R>G | Pierpont syndrome (ClinVar) Intellectual disability, autosomal dominant 41 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.919) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.177064938T>C Codon: AGA/GGA Consequence type: missense Cytogenetic band: 3q26.32 Genomic location: NC_000003.12:g.177064938T>C Locations: - p.Arg14Gly (Ensembl:ENST00000443315) - c.40A>G (Ensembl:ENST00000443315) Disease association: - Intellectual disability, autosomal dominant 41 (MRD41) - Pierpont syndrome (PRPTS) Source type: large scale study Cross-references: | |||||||
rs866772639 | 16 | L>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.471) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.177064930C>A Codon: TTG/TTT Consequence type: missense Cytogenetic band: 3q26.32 Genomic location: NC_000003.12:g.177064930C>A Locations: - p.Leu16Phe (Ensembl:ENST00000443315) - c.48G>T (Ensembl:ENST00000443315) Source type: large scale study Cross-references: | |||||||
rs1347736199 | 17 | Q>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.075) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.177064927T>G Codon: CAA/CAC Consequence type: missense Cytogenetic band: 3q26.32 Genomic location: NC_000003.12:g.177064927T>G Locations: - p.Gln17His (Ensembl:ENST00000443315) - c.51A>C (Ensembl:ENST00000443315) Source type: large scale study Cross-references: | |||||||
rs866461232 | 18 | E>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000003.12:g.177064926C>A Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 3q26.32 Genomic location: NC_000003.12:g.177064926C>A Locations: - p.Glu18Ter (Ensembl:ENST00000443315) - c.52G>T (Ensembl:ENST00000443315) Source type: large scale study Cross-references: | |||||||
rs1342744746 | 21 | F>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.177053916A>G Codon: TTT/CTT Consequence type: missense Cytogenetic band: 3q26.32 Genomic location: NC_000003.12:g.177053916A>G Locations: - p.Phe21Leu (Ensembl:ENST00000443315) - c.61T>C (Ensembl:ENST00000443315) Source type: large scale study Cross-references: | |||||||
RCV001558255 rs2108504127 | 25 | A>T | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.897) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.177053904C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 3q26.32 Genomic location: NC_000003.12:g.177053904C>T Locations: - p.Ala25Thr (Ensembl:ENST00000443315) - c.73G>A (Ensembl:ENST00000443315) Source type: large scale study | |||||||
CA10585976 RCV000239066 RCV001249757 rs879255421 | 29 | G>D | TBL1XR1-related neurodevelopmental disorders, including Pierpont syndrome (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.177053891C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: 3q26.32 Genomic location: NC_000003.12:g.177053891C>T Locations: - p.Gly29Asp (Ensembl:ENST00000443315) - c.86G>A (Ensembl:ENST00000443315) Disease association: - TBL1XR1-related neurodevelopmental disorders, including Pierpont syndrome Source type: large scale study Cross-references: | |||||||
rs1216702533 | 30 | I>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.066) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.177053888A>G Codon: ATA/ACA Consequence type: missense Cytogenetic band: 3q26.32 Genomic location: NC_000003.12:g.177053888A>G Locations: - p.Ile30Thr (Ensembl:ENST00000443315) - c.89T>C (Ensembl:ENST00000443315) Source type: large scale study Cross-references: | |||||||
rs2108504089 | 30 | I>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000003.12:g.177053889T>C Codon: ATA/GTA Consequence type: missense Cytogenetic band: 3q26.32 Genomic location: NC_000003.12:g.177053889T>C Locations: - p.Ile30Val (Ensembl:ENST00000443315) - c.88A>G (Ensembl:ENST00000443315) Source type: large scale study Cross-references: | |||||||
COSV61790874 RCV001316541 rs919621560 | 33 | H>R | Pierpont syndrome (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl, ClinVar) | NCI-TCGA Cosmic cosmic curated ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.687) - SIFT: deleterious - low confidence (0.04) Somatic: Yes Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000003.12:g.177053879T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 3q26.32 Genomic location: NC_000003.12:g.177053879T>C Locations: - p.H33R (NCI-TCGA:ENST00000443315) - p.His33Arg (Ensembl:ENST00000443315) - c.98A>G (Ensembl:ENST00000443315) Disease association: - Pierpont syndrome (PRPTS) Source type: large scale study | |||||||
rs1717437071 | 33 | H>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.842) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.177053880G>A Codon: CAT/TAT Consequence type: missense Cytogenetic band: 3q26.32 Genomic location: NC_000003.12:g.177053880G>A Locations: - p.His33Tyr (Ensembl:ENST00000443315) - c.97C>T (Ensembl:ENST00000443315) Source type: large scale study Cross-references: | |||||||
COSV61790135 RCV001946286 rs1717436350 | 38 | N>S | Pierpont syndrome (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl, ClinVar) | NCI-TCGA Cosmic cosmic curated ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000003.12:g.177053864T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 3q26.32 Genomic location: NC_000003.12:g.177053864T>C Locations: - p.N38S (NCI-TCGA:ENST00000443315) - p.Asn38Ser (Ensembl:ENST00000443315) - c.113A>G (Ensembl:ENST00000443315) Disease association: - Pierpont syndrome (PRPTS) Source type: large scale study | |||||||
COSV61790204 RCV002225992 RCV003093888 rs2108504030 | 40 | N>S | Pierpont syndrome (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.368) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000003.12:g.177053858T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 3q26.32 Genomic location: NC_000003.12:g.177053858T>C Locations: - p.Asn40Ser (Ensembl:ENST00000443315) - c.119A>G (Ensembl:ENST00000443315) Disease association: - Pierpont syndrome (PRPTS) Source type: large scale study Cross-references: | |||||||
rs1234470093 | 41 | G>A | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.473) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.177053855C>G Codon: GGT/GCT Consequence type: missense Cytogenetic band: 3q26.32 Genomic location: NC_000003.12:g.177053855C>G Locations: - p.Gly41Ala (Ensembl:ENST00000443315) - c.122G>C (Ensembl:ENST00000443315) Source type: large scale study Cross-references: | |||||||
RCV001971780 rs1234470093 | 41 | G>D | Pierpont syndrome (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000003.12:g.177053855C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: 3q26.32 Genomic location: NC_000003.12:g.177053855C>T Locations: - p.Gly41Asp (Ensembl:ENST00000443315) - c.122G>A (Ensembl:ENST00000443315) Disease association: - Pierpont syndrome (PRPTS) Source type: large scale study Cross-references: | |||||||
rs1278153331 | 42 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000003.12:g.177053853C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 3q26.32 Genomic location: NC_000003.12:g.177053853C>T Locations: - p.Ala42Thr (Ensembl:ENST00000443315) - c.124G>A (Ensembl:ENST00000443315) Source type: large scale study Cross-references: | |||||||
COSV61789320 rs1217281514 | 42 | A>V | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000003.12:g.177053852G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 3q26.32 Genomic location: NC_000003.12:g.177053852G>A Locations: - p.Ala42Val (Ensembl:ENST00000443315) - c.125C>T (Ensembl:ENST00000443315) Source type: large scale study Cross-references: | |||||||
CA355553694 RCV000624456 RCV001069668 rs1553817638 | 44 | V>I | Pierpont syndrome (ClinVar) Inborn genetic diseases (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.473) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.177053847C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 3q26.32 Genomic location: NC_000003.12:g.177053847C>T Locations: - p.Val44Ile (Ensembl:ENST00000443315) - c.130G>A (Ensembl:ENST00000443315) Disease association: - Inborn genetic diseases - Pierpont syndrome (PRPTS) Source type: large scale study Cross-references: | |||||||
rs1253058954 | 47 | A>S | Variant of uncertain significance (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.177053838C>A Codon: GCT/TCT Consequence type: missense Cytogenetic band: 3q26.32 Genomic location: NC_000003.12:g.177053838C>A Locations: - p.Ala47Ser (Ensembl:ENST00000443315) - c.139G>T (Ensembl:ENST00000443315) Source type: large scale study Cross-references: | |||||||
COSV107431473 RCV000998158 RCV003754903 rs1253058954 | 47 | A>T | Pierpont syndrome (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.351) - SIFT: deleterious - low confidence (0.04) Somatic: Yes Accession: NC_000003.12:g.177053838C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 3q26.32 Genomic location: NC_000003.12:g.177053838C>T Locations: - p.Ala47Thr (Ensembl:ENST00000443315) - c.139G>A (Ensembl:ENST00000443315) Disease association: - Pierpont syndrome (PRPTS) Source type: large scale study Cross-references: | |||||||
rs1717432012 | 48 | A>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.177053835C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 3q26.32 Genomic location: NC_000003.12:g.177053835C>T Locations: - p.Ala48Thr (Ensembl:ENST00000443315) - c.142G>A (Ensembl:ENST00000443315) Source type: large scale study Cross-references: | |||||||
rs745404843 | 52 | I>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000003.12:g.177053823T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 3q26.32 Genomic location: NC_000003.12:g.177053823T>C Locations: - p.Ile52Val (Ensembl:ENST00000443315) - c.154A>G (Ensembl:ENST00000443315) Source type: large scale study | |||||||
RCV002247167 rs2108503870 | 63 | E>K | Intellectual disability, autosomal dominant 41 (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.177053790C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 3q26.32 Genomic location: NC_000003.12:g.177053790C>T Locations: - p.Glu63Lys (Ensembl:ENST00000443315) - c.187G>A (Ensembl:ENST00000443315) Disease association: - Intellectual disability, autosomal dominant 41 (MRD41) Source type: large scale study | |||||||
RCV001204756 rs1717428641 | 66 | I>S | Pierpont syndrome (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.718) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.177053780A>C Codon: ATT/AGT Consequence type: missense Cytogenetic band: 3q26.32 Genomic location: NC_000003.12:g.177053780A>C Locations: - p.Ile66Ser (Ensembl:ENST00000443315) - c.197T>G (Ensembl:ENST00000443315) Disease association: - Pierpont syndrome (PRPTS) Source type: large scale study | |||||||
rs1476169127 | 67 | N>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.177053777T>G Codon: AAT/ACT Consequence type: missense Cytogenetic band: 3q26.32 Genomic location: NC_000003.12:g.177053777T>G Locations: - p.Asn67Thr (Ensembl:ENST00000443315) - c.200A>C (Ensembl:ENST00000443315) Source type: large scale study Cross-references: | |||||||
RCV001872576 rs2108497431 | 69 | D>Y | Pierpont syndrome (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.177051726C>A Codon: GAT/TAT Consequence type: missense Cytogenetic band: 3q26.32 Genomic location: NC_000003.12:g.177051726C>A Locations: - p.Asp69Tyr (Ensembl:ENST00000443315) - c.205G>T (Ensembl:ENST00000443315) Disease association: - Pierpont syndrome (PRPTS) Source type: large scale study | |||||||
VAR_076753 CA236468 RCV000171553 rs786205859 | 70 | G>D | MRD41 (UniProt) Intellectual disability, autosomal dominant 41 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000003.12:g.177051722C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: 3q26.32 Genomic location: NC_000003.12:g.177051722C>T Locations: - p.Gly70Asp (UniProt:Q9BZK7) - p.Gly70Asp (Ensembl:ENST00000443315) - c.209G>A (Ensembl:ENST00000443315) Disease association: - Intellectual developmental disorder, autosomal dominant 41 (MRD41) - Intellectual disability, autosomal dominant 41 (MRD41) Source type: mixed Cross-references: | |||||||
RCV001253379 rs1717114995 | 70 | G>R | Intellectual disability, autosomal dominant 41 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.177051723C>G Codon: GGT/CGT Consequence type: missense Cytogenetic band: 3q26.32 Genomic location: NC_000003.12:g.177051723C>G Locations: - p.Gly70Arg (Ensembl:ENST00000443315) - c.208G>C (Ensembl:ENST00000443315) Disease association: - Intellectual disability, autosomal dominant 41 (MRD41) Source type: large scale study | |||||||
rs2108497406 | 71 | T>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.108) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000003.12:g.177051719G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 3q26.32 Genomic location: NC_000003.12:g.177051719G>A Locations: - p.Thr71Ile (Ensembl:ENST00000443315) - c.212C>T (Ensembl:ENST00000443315) Source type: large scale study Cross-references: | |||||||
rs2108497392 | 72 | L>F | Likely benign (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0.141) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000003.12:g.177051715C>A Codon: TTG/TTT Consequence type: missense Cytogenetic band: 3q26.32 Genomic location: NC_000003.12:g.177051715C>A Locations: - p.Leu72Phe (Ensembl:ENST00000443315) - c.216G>T (Ensembl:ENST00000443315) Source type: large scale study Cross-references: | |||||||
rs1222387662 | 75 | G>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000003.12:g.177051708C>T Codon: GGT/AGT Consequence type: missense Cytogenetic band: 3q26.32 Genomic location: NC_000003.12:g.177051708C>T Locations: - p.Gly75Ser (Ensembl:ENST00000443315) - c.223G>A (Ensembl:ENST00000443315) Source type: large scale study Cross-references: | |||||||
COSV61789589 RCV000987354 RCV003127562 rs1577029680 | 76 | R>* | Pierpont syndrome (ClinVar) | Pathogenic (Ensembl, ClinVar) | cosmic curated ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: Yes Accession: NC_000003.12:g.177051705G>A Codon: CGA/TGA Consequence type: missense Cytogenetic band: 3q26.32 Genomic location: NC_000003.12:g.177051705G>A Locations: - p.Arg76Ter (Ensembl:ENST00000443315) - c.226C>T (Ensembl:ENST00000443315) Disease association: - Pierpont syndrome (PRPTS) Source type: large scale study Cross-references: | |||||||
RCV001757134 rs2108497362 | 76 | R>Q | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.047) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.177051704C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 3q26.32 Genomic location: NC_000003.12:g.177051704C>T Locations: - p.Arg76Gln (Ensembl:ENST00000443315) - c.227G>A (Ensembl:ENST00000443315) Source type: large scale study | |||||||
COSV61793107 rs1480036210 | 77 | P>L | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.09) Somatic: Yes Accession: NC_000003.12:g.177051701G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 3q26.32 Genomic location: NC_000003.12:g.177051701G>A Locations: - p.Pro77Leu (Ensembl:ENST00000443315) - c.230C>T (Ensembl:ENST00000443315) Source type: large scale study Cross-references: | |||||||
COSV100763612 RCV001070301 rs935282343 | 78 | I>V | Pierpont syndrome (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ClinVar dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.11) Somatic: Yes Population frequencies: - MAF: 0.000004156 (gnomAD) - MAF: 0 (ClinVar) Accession: NC_000003.12:g.177051699T>C Codon: ATA/GTA Consequence type: missense Cytogenetic band: 3q26.32 Genomic location: NC_000003.12:g.177051699T>C Locations: - p.I78V (NCI-TCGA:ENST00000443315) - p.Ile78Val (Ensembl:ENST00000443315) - c.232A>G (Ensembl:ENST00000443315) Disease association: - Pierpont syndrome (PRPTS) Source type: large scale study | |||||||
TCGA novel rs1717111856 | 81 | L>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Ensembl | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.915) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000003.12:g.177051690G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 3q26.32 Genomic location: NC_000003.12:g.177051690G>C Locations: - p.L81V (NCI-TCGA:ENST00000443315) - p.Leu81Val (Ensembl:ENST00000443315) - c.241C>G (Ensembl:ENST00000443315) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel |