D6RBB3 · D6RBB3_HUMAN
- ProteinJade family PHD finger 1
- GeneJADE1
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids131 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs1728576699 | 3 | R>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000004.12:g.128831765C>T Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128831765C>T Locations: - p.Arg3Ter (Ensembl:ENST00000507833) - c.7C>T (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs2058332723 | 4 | G>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000004.12:g.128831768G>C Codon: GGT/CGT Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128831768G>C Locations: - p.Gly4Arg (Ensembl:ENST00000507833) - c.10G>C (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs1176782190 | 5 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000004.12:g.128831771C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128831771C>T Locations: - p.R5C (NCI-TCGA:ENST00000507833) - p.Arg5Cys (Ensembl:ENST00000507833) - c.13C>T (Ensembl:ENST00000507833) Source type: large scale study | |||||||
rs766185273 | 5 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.825) - SIFT: deleterious (0.02) Somatic: No Population frequencies: - MAF: 0.00001193 (gnomAD) Accession: NC_000004.12:g.128831772G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128831772G>A Locations: - p.R5H (NCI-TCGA:ENST00000507833) - p.Arg5His (Ensembl:ENST00000507833) - c.14G>A (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs766185273 | 5 | R>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.699) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.128831772G>C Codon: CGC/CCC Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128831772G>C Locations: - p.Arg5Pro (Ensembl:ENST00000507833) - c.14G>C (Ensembl:ENST00000507833) Source type: large scale study | |||||||
rs1260001001 | 6 | L>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.303) - SIFT: tolerated (0.6) Somatic: No Accession: NC_000004.12:g.128831774C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128831774C>T Locations: - p.Leu6Phe (Ensembl:ENST00000507833) - c.16C>T (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs1728578203 | 7 | P>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.059) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000004.12:g.128831777C>G Codon: CCC/GCC Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128831777C>G Locations: - p.Pro7Ala (Ensembl:ENST00000507833) - c.19C>G (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs1314629053 | 7 | P>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.298) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000004.12:g.128831778C>G Codon: CCC/CGC Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128831778C>G Locations: - p.Pro7Arg (Ensembl:ENST00000507833) - c.20C>G (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs774779608 | 8 | S>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.043) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000004.12:g.128831781G>C Codon: AGC/ACC Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128831781G>C Locations: - p.Ser8Thr (Ensembl:ENST00000507833) - c.23G>C (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs1323518130 | 10 | S>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000004.12:g.128831786A>G Codon: AGT/GGT Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128831786A>G Locations: - p.Ser10Gly (Ensembl:ENST00000507833) - c.28A>G (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs369794897 | 14 | D>E | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000004.12:g.128831800C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128831800C>G Locations: - p.Asp14Glu (Ensembl:ENST00000507833) - c.42C>G (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs1728579688 | 14 | D>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.128831798G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128831798G>T Locations: - p.Asp14Tyr (Ensembl:ENST00000507833) - c.40G>T (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs1235942435 | 15 | D>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000004.12:g.128831801G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128831801G>A Locations: - p.Asp15Asn (Ensembl:ENST00000507833) - c.43G>A (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs148007116 | 16 | N>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.052) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000004.12:g.128831805A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128831805A>G Locations: - p.Asn16Ser (Ensembl:ENST00000507833) - c.47A>G (Ensembl:ENST00000507833) Source type: large scale study | |||||||
rs764219838 | 21 | T>I | 1000Genomes ExAC | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.803) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000004.12:g.128842962C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128842962C>T Locations: - p.Thr21Ile (Ensembl:ENST00000507833) - c.62C>T (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs552872787 | 22 | T>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000004.12:g.128842964A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128842964A>G Locations: - p.Thr22Ala (Ensembl:ENST00000507833) - c.64A>G (Ensembl:ENST00000507833) Source type: large scale study | |||||||
rs1029723011 | 23 | W>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.565) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000004.12:g.128842968G>C Codon: TGG/TCG Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128842968G>C Locations: - p.Trp23Ser (Ensembl:ENST00000507833) - c.68G>C (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs774236013 | 27 | S>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.128842980C>G Codon: TCC/TGC Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128842980C>G Locations: - p.Ser27Cys (Ensembl:ENST00000507833) - c.80C>G (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
COSV56903821 rs774236013 | 27 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.973) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000004.12:g.128842980C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128842980C>T Locations: - p.S27F (NCI-TCGA:ENST00000507833) - p.Ser27Phe (Ensembl:ENST00000507833) - c.80C>T (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs1729571426 | 28 | R>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.225) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000004.12:g.128842982C>G Codon: CGA/GGA Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128842982C>G Locations: - p.Arg28Gly (Ensembl:ENST00000507833) - c.82C>G (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs371320173 | 28 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.376) - SIFT: tolerated (0.05) Somatic: No Population frequencies: - MAF: 0.00002386 (gnomAD) Accession: NC_000004.12:g.128842983G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128842983G>A Locations: - p.R28Q (NCI-TCGA:ENST00000507833) - p.Arg28Gln (Ensembl:ENST00000507833) - c.83G>A (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs765685798 | 29 | S>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.96) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000004.12:g.128842986C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128842986C>T Locations: - p.Ser29Phe (Ensembl:ENST00000507833) - c.86C>T (Ensembl:ENST00000507833) Source type: large scale study | |||||||
rs1281928647 | 30 | Q>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000004.12:g.128842990G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128842990G>C Locations: - p.Gln30His (Ensembl:ENST00000507833) - c.90G>C (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs2125849396 | 30 | Q>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000004.12:g.128842988C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128842988C>A Locations: - p.Gln30Lys (Ensembl:ENST00000507833) - c.88C>A (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs750818762 | 31 | H>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000004.12:g.128842992A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128842992A>G Locations: - p.His31Arg (Ensembl:ENST00000507833) - c.92A>G (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs1423068852 | 32 | R>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.38) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000004.12:g.128842995G>T Codon: AGG/ATG Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128842995G>T Locations: - p.Arg32Met (Ensembl:ENST00000507833) - c.95G>T (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs780875459 | 34 | S>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000004.12:g.128843001G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128843001G>A Locations: - p.Ser34Asn (Ensembl:ENST00000507833) - c.101G>A (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
COSV56909921 rs1729574294 | 35 | S>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.638) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000004.12:g.128843004C>G Codon: TCC/TGC Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128843004C>G Locations: - p.S35C (NCI-TCGA:ENST00000507833) - p.Ser35Cys (Ensembl:ENST00000507833) - c.104C>G (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs747826172 | 35 | S>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.72) Somatic: No Accession: NC_000004.12:g.128843003T>A Codon: TCC/ACC Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128843003T>A Locations: - p.Ser35Thr (Ensembl:ENST00000507833) - c.103T>A (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs1330374740 | 36 | C>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.141) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000004.12:g.128843006T>G Codon: TGC/GGC Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128843006T>G Locations: - p.Cys36Gly (Ensembl:ENST00000507833) - c.106T>G (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs777339387 | 37 | S>F | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000004.12:g.128843010C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128843010C>T Locations: - p.Ser37Phe (Ensembl:ENST00000507833) - c.110C>T (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs748686012 | 38 | R>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.747) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000004.12:g.128843012A>G Codon: AGA/GGA Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128843012A>G Locations: - p.Arg38Gly (Ensembl:ENST00000507833) - c.112A>G (Ensembl:ENST00000507833) Source type: large scale study | |||||||
rs866750928 | 38 | R>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.933) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000004.12:g.128843013G>T Codon: AGA/ATA Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128843013G>T Locations: - p.Arg38Ile (Ensembl:ENST00000507833) - c.113G>T (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs141704909 | 39 | H>L | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.087) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000004.12:g.128843016A>T Codon: CAT/CTT Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128843016A>T Locations: - p.His39Leu (Ensembl:ENST00000507833) - c.116A>T (Ensembl:ENST00000507833) Source type: large scale study | |||||||
rs771011256 | 39 | H>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.087) - SIFT: tolerated (0.43) Somatic: No Accession: NC_000004.12:g.128843015C>A Codon: CAT/AAT Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128843015C>A Locations: - p.His39Asn (Ensembl:ENST00000507833) - c.115C>A (Ensembl:ENST00000507833) Source type: large scale study | |||||||
rs141704909 | 39 | H>P | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000004.12:g.128843016A>C Codon: CAT/CCT Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128843016A>C Locations: - p.His39Pro (Ensembl:ENST00000507833) - c.116A>C (Ensembl:ENST00000507833) Source type: large scale study | |||||||
rs745697367 | 39 | H>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.51) Somatic: No Accession: NC_000004.12:g.128843017T>A Codon: CAT/CAA Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128843017T>A Locations: - p.His39Gln (Ensembl:ENST00000507833) - c.117T>A (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs141704909 | 39 | H>R | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000004.12:g.128843016A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128843016A>G Locations: - p.His39Arg (Ensembl:ENST00000507833) - c.116A>G (Ensembl:ENST00000507833) Source type: large scale study | |||||||
rs771011256 | 39 | H>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.289) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.128843015C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128843015C>T Locations: - p.His39Tyr (Ensembl:ENST00000507833) - c.115C>T (Ensembl:ENST00000507833) Source type: large scale study | |||||||
rs1193865594 | 40 | E>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.513) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000004.12:g.128843019A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128843019A>G Locations: - p.Glu40Gly (Ensembl:ENST00000507833) - c.119A>G (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs1219221505 | 42 | R>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.904) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000004.12:g.128843024C>G Codon: CGA/GGA Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128843024C>G Locations: - p.Arg42Gly (Ensembl:ENST00000507833) - c.124C>G (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs771969842 | 42 | R>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.249) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000004.12:g.128843025G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128843025G>A Locations: - p.Arg42Gln (Ensembl:ENST00000507833) - c.125G>A (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs1237366560 | 45 | S>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.83) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000004.12:g.128843033T>G Codon: TCA/GCA Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128843033T>G Locations: - p.Ser45Ala (Ensembl:ENST00000507833) - c.133T>G (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs2125849612 | 46 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000004.12:g.128843037A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128843037A>G Locations: - p.Glu46Gly (Ensembl:ENST00000507833) - c.137A>G (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs761933433 | 48 | F>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.128846380T>G Codon: TTT/TTG Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128846380T>G Locations: - p.Phe48Leu (Ensembl:ENST00000507833) - c.144T>G (Ensembl:ENST00000507833) Source type: large scale study | |||||||
rs773777832 | 59 | H>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.91) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000004.12:g.128846412A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128846412A>G Locations: - p.His59Arg (Ensembl:ENST00000507833) - c.176A>G (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs945012862 | 62 | Y>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.115) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000004.12:g.128846421A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128846421A>G Locations: - p.Tyr62Cys (Ensembl:ENST00000507833) - c.185A>G (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs1041995022 | 63 | Q>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000004.12:g.128846425G>C, NC_000004.12:g.128846425G>T Codon: CAG/CAC Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128846425G>C, NC_000004.12:g.128846425G>T Locations: - p.Gln63His (Ensembl:ENST00000507833) - c.189G>C (Ensembl:ENST00000507833) - c.189G>T (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs369937525 | 63 | Q>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.128846424A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128846424A>G Locations: - p.Gln63Arg (Ensembl:ENST00000507833) - c.188A>G (Ensembl:ENST00000507833) Source type: large scale study | |||||||
rs759775725 | 66 | P>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.897) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000004.12:g.128846433C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128846433C>T Locations: - p.Pro66Leu (Ensembl:ENST00000507833) - c.197C>T (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs751973244 | 66 | P>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000004.12:g.128846432C>T Codon: CCG/TCG Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128846432C>T Locations: - p.Pro66Ser (Ensembl:ENST00000507833) - c.196C>T (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs753409370 | 67 | D>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.966) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000004.12:g.128846436A>T Codon: GAT/GTT Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128846436A>T Locations: - p.Asp67Val (Ensembl:ENST00000507833) - c.200A>T (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs1450672439 | 70 | Y>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000004.12:g.128846445A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128846445A>G Locations: - p.Tyr70Cys (Ensembl:ENST00000507833) - c.209A>G (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs1729881690 | 72 | L>M | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.128846450T>A Codon: TTG/ATG Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128846450T>A Locations: - p.Leu72Met (Ensembl:ENST00000507833) - c.214T>A (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs1434432893 | 82 | K>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.128846481A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128846481A>G Locations: - p.Lys82Arg (Ensembl:ENST00000507833) - c.245A>G (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs779817654 | 90 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.249) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000004.12:g.128846505C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128846505C>T Locations: - p.Pro90Leu (Ensembl:ENST00000507833) - c.269C>T (Ensembl:ENST00000507833) Source type: large scale study | |||||||
rs781538943 | 92 | T>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.092) - SIFT: tolerated (1) Somatic: No Accession: NC_000004.12:g.128846511C>G Codon: ACC/AGC Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128846511C>G Locations: - p.Thr92Ser (Ensembl:ENST00000507833) - c.275C>G (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs376255869 | 95 | Q>E | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.68) Somatic: No Accession: NC_000004.12:g.128846519C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128846519C>G Locations: - p.Gln95Glu (Ensembl:ENST00000507833) - c.283C>G (Ensembl:ENST00000507833) Source type: large scale study | |||||||
rs1729885846 | 96 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000004.12:g.128846523C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128846523C>T Locations: - p.Pro96Leu (Ensembl:ENST00000507833) - c.287C>T (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs903025143 | 97 | V>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.441) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000004.12:g.128846526T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128846526T>C Locations: - p.Val97Ala (Ensembl:ENST00000507833) - c.290T>C (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs369236924 | 97 | V>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.658) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000004.12:g.128846525G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128846525G>T Locations: - p.Val97Leu (Ensembl:ENST00000507833) - c.289G>T (Ensembl:ENST00000507833) Source type: large scale study | |||||||
rs1377999565 | 98 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.184) - SIFT: tolerated (1) Somatic: No Accession: NC_000004.12:g.128846529C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128846529C>T Locations: - p.Ala98Val (Ensembl:ENST00000507833) - c.293C>T (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
COSV107313959 rs115545201 | 104 | E>D | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.051) - SIFT: tolerated (0.15) Somatic: Yes Accession: NC_000004.12:g.128848995G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128848995G>T Locations: - p.Glu104Asp (Ensembl:ENST00000507833) - c.312G>T (Ensembl:ENST00000507833) Source type: large scale study | |||||||
rs2125861641 | 106 | S>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000004.12:g.128848999T>A Codon: TCC/ACC Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128848999T>A Locations: - p.Ser106Thr (Ensembl:ENST00000507833) - c.316T>A (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs373577859 | 108 | M>T | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000004.12:g.128849006T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128849006T>C Locations: - p.Met108Thr (Ensembl:ENST00000507833) - c.323T>C (Ensembl:ENST00000507833) Source type: large scale study | |||||||
rs1176668175 | 110 | I>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.622) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000004.12:g.128849011A>T Codon: ATC/TTC Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128849011A>T Locations: - p.Ile110Phe (Ensembl:ENST00000507833) - c.328A>T (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs923960803 | 111 | R>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.18) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000004.12:g.128849015G>C Codon: AGG/ACG Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128849015G>C Locations: - p.Arg111Thr (Ensembl:ENST00000507833) - c.332G>C (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs1171327119 | 112 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000004.12:g.128849017C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128849017C>T Locations: - p.Pro112Ser (Ensembl:ENST00000507833) - c.334C>T (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs747883572 | 115 | Y>C | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.952) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000004.12:g.128849027A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128849027A>G Locations: - p.Tyr115Cys (Ensembl:ENST00000507833) - c.344A>G (Ensembl:ENST00000507833) Source type: large scale study | |||||||
rs780856254 | 115 | Y>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.186) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000004.12:g.128849026T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128849026T>C Locations: - p.Tyr115His (Ensembl:ENST00000507833) - c.343T>C (Ensembl:ENST00000507833) Source type: large scale study | |||||||
rs201738680 | 116 | I>M | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.604) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000004.12:g.128849031C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128849031C>G Locations: - p.Ile116Met (Ensembl:ENST00000507833) - c.348C>G (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs1398406448 | 116 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.18) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000004.12:g.128849029A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128849029A>G Locations: - p.Ile116Val (Ensembl:ENST00000507833) - c.346A>G (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs749405711 | 117 | V>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.199) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000004.12:g.128849032G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128849032G>A Locations: - p.Val117Met (Ensembl:ENST00000507833) - c.349G>A (Ensembl:ENST00000507833) Source type: large scale study | |||||||
COSV99885618 rs1730117244 | 118 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed | |||
Consequence: missense Predictions: - PolyPhen: benign (0.358) - SIFT: tolerated (0.08) Somatic: Yes Accession: NC_000004.12:g.128849036C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128849036C>T Locations: - p.S118L (NCI-TCGA:ENST00000507833) - p.Ser118Leu (Ensembl:ENST00000507833) - c.353C>T (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
COSV56906446 rs1231040450 | 120 | G>D | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.83) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000004.12:g.128849042G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128849042G>A Locations: - p.Gly120Asp (Ensembl:ENST00000507833) - c.359G>A (Ensembl:ENST00000507833) Source type: large scale study | |||||||
rs774979265 | 121 | S>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.294) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000004.12:g.128849045C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128849045C>T Locations: - p.Ser121Phe (Ensembl:ENST00000507833) - c.362C>T (Ensembl:ENST00000507833) Source type: large scale study | |||||||
rs1318457083 | 121 | S>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.869) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000004.12:g.128849044T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128849044T>C Locations: - p.Ser121Pro (Ensembl:ENST00000507833) - c.361T>C (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs2125861814 | 123 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.848) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000004.12:g.128849050C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128849050C>T Locations: - p.Pro123Ser (Ensembl:ENST00000507833) - c.367C>T (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs865949490 | 124 | P>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.128849054C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128849054C>T Locations: - p.Pro124Leu (Ensembl:ENST00000507833) - c.371C>T (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs1730119124 | 124 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000004.12:g.128849053C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128849053C>T Locations: - p.Pro124Ser (Ensembl:ENST00000507833) - c.370C>T (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs1730120407 | 125 | E>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000004.12:g.128849057A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128849057A>C Locations: - p.Glu125Ala (Ensembl:ENST00000507833) - c.374A>C (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs552387202 | 125 | E>K | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.063) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000004.12:g.128849056G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128849056G>A Locations: - p.Glu125Lys (Ensembl:ENST00000507833) - c.373G>A (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs1730120957 | 127 | G>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.976) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.128849063G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128849063G>A Locations: - p.Gly127Asp (Ensembl:ENST00000507833) - c.380G>A (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs1268911238 | 128 | Y>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000004.12:g.128849066A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128849066A>G Locations: - p.Tyr128Cys (Ensembl:ENST00000507833) - c.383A>G (Ensembl:ENST00000507833) Source type: large scale study Cross-references: | |||||||
rs1430931665 | 129 | V>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000004.12:g.128849068G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.128849068G>C Locations: - p.Val129Leu (Ensembl:ENST00000507833) - c.385G>C (Ensembl:ENST00000507833) Source type: large scale study Cross-references: |