C9JUH5 · C9JUH5_HUMAN
- ProteinStress-associated endoplasmic reticulum protein
- GeneSERP1
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids
- Protein existenceEvidence at protein level
- Annotation score2/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs1323446256 | 4 | K>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.059) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000003.12:g.150546124C>G Codon: AAG/AAC Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150546124C>G Locations: - p.Lys4Asn (Ensembl:ENST00000491660) - c.12G>C (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs951627969 | 4 | K>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.61) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000003.12:g.150546125T>G Codon: AAG/ACG Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150546125T>G Locations: - p.Lys4Thr (Ensembl:ENST00000491660) - c.11A>C (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs1323755941 | 5 | Q>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0) Somatic: No Accession: NC_000003.12:g.150546123G>C Codon: CAA/GAA Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150546123G>C Locations: - p.Gln5Glu (Ensembl:ENST00000491660) - c.13C>G (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs761809141 | 5 | Q>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000003.12:g.150546121T>G Codon: CAA/CAC Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150546121T>G Locations: - p.Gln5His (Ensembl:ENST00000491660) - c.15A>C (Ensembl:ENST00000491660) Source type: large scale study | |||||||
rs1723000915 | 5 | Q>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000003.12:g.150546122T>C Codon: CAA/CGA Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150546122T>C Locations: - p.Gln5Arg (Ensembl:ENST00000491660) - c.14A>G (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs776475809 | 7 | I>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.165) - SIFT: tolerated (0.58) Somatic: No Accession: NC_000003.12:g.150546115G>C Codon: ATC/ATG Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150546115G>C Locations: - p.Ile7Met (Ensembl:ENST00000491660) - c.21C>G (Ensembl:ENST00000491660) Source type: large scale study | |||||||
rs192313487 | 8 | R>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.874) - SIFT: deleterious (0) Somatic: No Accession: NC_000003.12:g.150546114G>C Codon: CGT/GGT Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150546114G>C Locations: - p.Arg8Gly (Ensembl:ENST00000491660) - c.22C>G (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs1159727455 | 8 | R>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000003.12:g.150546113C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150546113C>T Locations: - p.Arg8His (Ensembl:ENST00000491660) - c.23G>A (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs1159727455 | 8 | R>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.96) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000003.12:g.150546113C>G Codon: CGT/CCT Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150546113C>G Locations: - p.Arg8Pro (Ensembl:ENST00000491660) - c.23G>C (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs768192797 | 9 | M>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.391) - SIFT: deleterious (0) Somatic: No Accession: NC_000003.12:g.150546110A>T Codon: ATG/AAG Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150546110A>T Locations: - p.Met9Lys (Ensembl:ENST00000491660) - c.26T>A (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs1468166923 | 9 | M>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.075) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000003.12:g.150546111T>G Codon: ATG/CTG Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150546111T>G Locations: - p.Met9Leu (Ensembl:ENST00000491660) - c.25A>C (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs1468166923 | 9 | M>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000003.12:g.150546111T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150546111T>C Locations: - p.Met9Val (Ensembl:ENST00000491660) - c.25A>G (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs760130480 | 10 | A>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000003.12:g.150546107G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150546107G>T Locations: - p.Ala10Asp (Ensembl:ENST00000491660) - c.29C>A (Ensembl:ENST00000491660) Source type: large scale study | |||||||
rs760130480 | 10 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000003.12:g.150546107G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150546107G>A Locations: - p.Ala10Val (Ensembl:ENST00000491660) - c.29C>T (Ensembl:ENST00000491660) Source type: large scale study | |||||||
rs745532334 | 11 | N>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.904) - SIFT: deleterious (0) Somatic: No Accession: NC_000003.12:g.150546103G>T Codon: AAC/AAA Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150546103G>T Locations: - p.Asn11Lys (Ensembl:ENST00000491660) - c.33C>A (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs771645475 | 11 | N>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.315) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000003.12:g.150546104T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150546104T>C Locations: - p.Asn11Ser (Ensembl:ENST00000491660) - c.32A>G (Ensembl:ENST00000491660) Source type: large scale study | |||||||
rs771645475 | 11 | N>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.83) - SIFT: deleterious (0) Somatic: No Accession: NC_000003.12:g.150546104T>G Codon: AAC/ACC Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150546104T>G Locations: - p.Asn11Thr (Ensembl:ENST00000491660) - c.32A>C (Ensembl:ENST00000491660) Source type: large scale study | |||||||
COSV53525672 | 13 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000003.12:g.150546097C>A Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150546097C>A Locations: - p.K13N (NCI-TCGA:ENST00000491660) - p.Lys13Asn (cosmic curated:ENST00000491660) - c.39G>T (cosmic curated:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs1213288859 | 13 | K>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.118) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000003.12:g.150546098T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150546098T>C Locations: - p.Lys13Arg (Ensembl:ENST00000491660) - c.38A>G (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs1286619876 | 15 | S>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000003.12:g.150546093T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150546093T>C Locations: - p.Ser15Gly (Ensembl:ENST00000491660) - c.43A>G (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs770121176 | 15 | S>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000003.12:g.150546092C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150546092C>T Locations: - p.Ser15Asn (Ensembl:ENST00000491660) - c.44G>A (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs745325311 | 15 | S>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000003.12:g.150546091G>T, NC_000003.12:g.150546091G>C Codon: AGC/AGA Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150546091G>T, NC_000003.12:g.150546091G>C Locations: - p.Ser15Arg (Ensembl:ENST00000491660) - c.45C>A (Ensembl:ENST00000491660) - c.45C>G (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs1237203439 | 17 | N>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.929) - SIFT: deleterious (0) Somatic: No Accession: NC_000003.12:g.150546085G>C Codon: AAC/AAG Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150546085G>C Locations: - p.Asn17Lys (Ensembl:ENST00000491660) - c.51C>G (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs1304763172 | 17 | N>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.762) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000003.12:g.150546086T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150546086T>C Locations: - p.N17S (NCI-TCGA:ENST00000491660) - p.Asn17Ser (Ensembl:ENST00000491660) - c.50A>G (Ensembl:ENST00000491660) Source type: large scale study | |||||||
rs1294972033 | 18 | I>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000003.12:g.150546083A>C Codon: ATC/AGC Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150546083A>C Locations: - p.Ile18Ser (Ensembl:ENST00000491660) - c.53T>G (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs748656223 | 19 | T>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.968) - SIFT: deleterious (0) Somatic: No Accession: NC_000003.12:g.150546080G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150546080G>A Locations: - p.Thr19Ile (Ensembl:ENST00000491660) - c.56C>T (Ensembl:ENST00000491660) Source type: large scale study | |||||||
rs781596806 | 20 | Q>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000003.12:g.150546078G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150546078G>A Locations: - p.Gln20Ter (Ensembl:ENST00000491660) - c.58C>T (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs998796439 | 21 | R>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.874) - SIFT: deleterious (0) Somatic: No Accession: NC_000003.12:g.150546075G>C Codon: CGC/GGC Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150546075G>C Locations: - p.Arg21Gly (Ensembl:ENST00000491660) - c.61C>G (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs150926979 | 23 | N>S | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.104) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000003.12:g.150546068T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150546068T>C Locations: - p.Asn23Ser (Ensembl:ENST00000491660) - c.68A>G (Ensembl:ENST00000491660) Source type: large scale study | |||||||
rs755528762 | 24 | V>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000003.12:g.150546065A>G Codon: GTC/GCC Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150546065A>G Locations: - p.Val24Ala (Ensembl:ENST00000491660) - c.71T>C (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
COSV105852308 rs751645465 | 25 | A>S | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.116) - SIFT: tolerated (0.08) Somatic: Yes Accession: NC_000003.12:g.150546063C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150546063C>A Locations: - p.Ala25Ser (Ensembl:ENST00000491660) - c.73G>T (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs780281285 | 27 | T>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.915) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000003.12:g.150546056G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150546056G>A Locations: - p.Thr27Ile (Ensembl:ENST00000491660) - c.80C>T (Ensembl:ENST00000491660) Source type: large scale study | |||||||
rs780281285 | 27 | T>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.776) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000003.12:g.150546056G>T Codon: ACC/AAC Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150546056G>T Locations: - p.Thr27Asn (Ensembl:ENST00000491660) - c.80C>A (Ensembl:ENST00000491660) Source type: large scale study | |||||||
rs1159200864 | 27 | T>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.142) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000003.12:g.150546057T>A Codon: ACC/TCC Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150546057T>A Locations: - p.Thr27Ser (Ensembl:ENST00000491660) - c.79A>T (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
COSV99065392 rs1722997096 | 28 | S>L | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.39) Somatic: Yes Accession: NC_000003.12:g.150546053G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150546053G>A Locations: - p.Ser28Leu (Ensembl:ENST00000491660) - c.83C>T (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
COSV53525726 | 29 | R>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000003.12:g.150545777C>A Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545777C>A Locations: - p.R29I (NCI-TCGA:ENST00000491660) - p.Arg29Ile (cosmic curated:ENST00000491660) - c.86G>T (cosmic curated:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs199988150 | 30 | N>K | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.303) - SIFT: tolerated (0.55) Somatic: No Accession: NC_000003.12:g.150545773A>C Codon: AAT/AAG Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545773A>C Locations: - p.Asn30Lys (Ensembl:ENST00000491660) - c.90T>G (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs1484744502 | 30 | N>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.059) - SIFT: tolerated (0.47) Somatic: No Accession: NC_000003.12:g.150545774T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545774T>C Locations: - p.Asn30Ser (Ensembl:ENST00000491660) - c.89A>G (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs1372146894 | 31 | A>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000003.12:g.150545772C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545772C>T Locations: - p.Ala31Thr (Ensembl:ENST00000491660) - c.91G>A (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs758595701 | 31 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000003.12:g.150545771G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545771G>A Locations: - p.Ala31Val (Ensembl:ENST00000491660) - c.92C>T (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs778955616 | 32 | P>A | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000003.12:g.150545769G>C Codon: CCC/GCC Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545769G>C Locations: - p.Pro32Ala (Ensembl:ENST00000491660) - c.94C>G (Ensembl:ENST00000491660) Source type: large scale study | |||||||
rs1271400685 | 32 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.098) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000003.12:g.150545768G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545768G>A Locations: - p.Pro32Leu (Ensembl:ENST00000491660) - c.95C>T (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs778955616 | 32 | P>S | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000003.12:g.150545769G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545769G>A Locations: - p.Pro32Ser (Ensembl:ENST00000491660) - c.94C>T (Ensembl:ENST00000491660) Source type: large scale study | |||||||
rs868703706 | 35 | K>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.861) - SIFT: deleterious (0) Somatic: No Accession: NC_000003.12:g.150545760T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545760T>C Locations: - p.Lys35Glu (Ensembl:ENST00000491660) - c.103A>G (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs1722980822 | 36 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.223) - SIFT: tolerated (0.44) Somatic: No Accession: NC_000003.12:g.150545757C>T Codon: GCG/ACG Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545757C>T Locations: - p.Ala36Thr (Ensembl:ENST00000491660) - c.106G>A (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs1316846732 | 36 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.46) Somatic: No Accession: NC_000003.12:g.150545756G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545756G>A Locations: - p.Ala36Val (Ensembl:ENST00000491660) - c.107C>T (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
COSV53526402 rs1722980360 | 37 | S>F | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.503) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000003.12:g.150545753G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545753G>A Locations: - p.Ser37Phe (Ensembl:ENST00000491660) - c.110C>T (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs1416042897 | 38 | V>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000003.12:g.150545751C>A Codon: GTA/TTA Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545751C>A Locations: - p.Val38Leu (Ensembl:ENST00000491660) - c.112G>T (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs1036092370 | 39 | G>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000003.12:g.150545747C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545747C>T Locations: - p.Gly39Glu (Ensembl:ENST00000491660) - c.116G>A (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs1302167135 | 40 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000003.12:g.150545745G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545745G>A Locations: - p.Pro40Ser (Ensembl:ENST00000491660) - c.118C>T (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
COSV99526542 COSV99526543 | 41 | W>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000003.12:g.150545740C>T, NC_000003.12:g.150545741C>T Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545740C>T, NC_000003.12:g.150545741C>T Locations: - p.W41* (NCI-TCGA:ENST00000491660) - p.Trp41Ter (cosmic curated:ENST00000491660) - c.123G>A (cosmic curated:ENST00000491660) - c.122G>A (cosmic curated:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs1196461770 | 44 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000003.12:g.150545732G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545732G>A Locations: - p.Ala44Val (Ensembl:ENST00000491660) - c.131C>T (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
COSV53525851 | 45 | L>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000003.12:g.150545729A>C Consequence type: missense Cytogenetic band: Genomic location: NC_000003.12:g.150545729A>C Locations: - p.Leu45Arg (cosmic curated:ENST00000491660) - c.134T>G (cosmic curated:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs752698765 | 45 | L>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000003.12:g.150545730G>C Codon: CTC/GTC Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545730G>C Locations: - p.Leu45Val (Ensembl:ENST00000491660) - c.133C>G (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs759094289 | 46 | F>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000003.12:g.150545725G>T Codon: TTC/TTA Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545725G>T Locations: - p.Phe46Leu (Ensembl:ENST00000491660) - c.138C>A (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs773930703 | 47 | I>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.84) Somatic: No Accession: NC_000003.12:g.150545724T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545724T>C Locations: - p.Ile47Val (Ensembl:ENST00000491660) - c.139A>G (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
COSV99526555 | 48 | F>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000003.12:g.150545720A>G Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545720A>G Locations: - p.F48S (NCI-TCGA:ENST00000491660) - p.Phe48Ser (cosmic curated:ENST00000491660) - c.143T>C (cosmic curated:ENST00000491660) Source type: large scale study Cross-references: | |||||||
COSV53526574 | 51 | C>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000003.12:g.150545712A>C Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545712A>C Locations: - p.C51G (NCI-TCGA:ENST00000491660) - p.Cys51Gly (cosmic curated:ENST00000491660) - c.151T>G (cosmic curated:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs1459088030 | 54 | G>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.585) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000003.12:g.150545702C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545702C>T Locations: - p.Gly54Asp (Ensembl:ENST00000491660) - c.161G>A (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs1722977997 | 56 | W>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000003.12:g.150545695C>T Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545695C>T Locations: - p.Trp56Ter (Ensembl:ENST00000491660) - c.168G>A (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs1255617357 | 57 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.95) Somatic: No Accession: NC_000003.12:g.150545694G>A Codon: CTT/TTT Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545694G>A Locations: - p.Leu57Phe (Ensembl:ENST00000491660) - c.169C>T (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs1178268835 | 57 | L>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.19) Somatic: No Accession: NC_000003.12:g.150545693A>G Codon: CTT/CCT Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545693A>G Locations: - p.Leu57Pro (Ensembl:ENST00000491660) - c.170T>C (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs765906056 | 58 | G>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.955) - SIFT: tolerated - low confidence (0.35) Somatic: No Accession: NC_000003.12:g.150545691C>G Codon: GGG/CGG Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545691C>G Locations: - p.Gly58Arg (Ensembl:ENST00000491660) - c.172G>C (Ensembl:ENST00000491660) Source type: large scale study | |||||||
rs1576582024 | 58 | G>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.955) - SIFT: tolerated - low confidence (0.5) Somatic: No Accession: NC_000003.12:g.150545690C>A Codon: GGG/GTG Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545690C>A Locations: - p.Gly58Val (Ensembl:ENST00000491660) - c.173G>T (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs765906056 | 58 | G>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.966) - SIFT: tolerated - low confidence (0.17) Somatic: No Accession: NC_000003.12:g.150545691C>A Codon: GGG/TGG Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545691C>A Locations: - p.Gly58Trp (Ensembl:ENST00000491660) - c.172G>T (Ensembl:ENST00000491660) Source type: large scale study | |||||||
rs1469210471 | 59 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.35) Somatic: No Accession: NC_000003.12:g.150545688C>G Codon: GGC/CGC Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545688C>G Locations: - p.Gly59Arg (Ensembl:ENST00000491660) - c.175G>C (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs1273385813 | 59 | G>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.52) Somatic: No Accession: NC_000003.12:g.150545687C>A Codon: GGC/GTC Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545687C>A Locations: - p.Gly59Val (Ensembl:ENST00000491660) - c.176G>T (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs762667112 | 60 | S>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.5) Somatic: No Accession: NC_000003.12:g.150545684G>T Codon: TCC/TAC Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545684G>T Locations: - p.Ser60Tyr (Ensembl:ENST00000491660) - c.179C>A (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs1576581996 | 61 | H>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.3) Somatic: No Accession: NC_000003.12:g.150545681T>G Codon: CAT/CCT Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545681T>G Locations: - p.His61Pro (Ensembl:ENST00000491660) - c.182A>C (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs2107887732 | 61 | H>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.29) Somatic: No Accession: NC_000003.12:g.150545680A>C Codon: CAT/CAG Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545680A>C Locations: - p.His61Gln (Ensembl:ENST00000491660) - c.183T>G (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
COSV53526654 | 61 | H>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000003.12:g.150545681T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000003.12:g.150545681T>C Locations: - p.His61Arg (cosmic curated:ENST00000491660) - c.182A>G (cosmic curated:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs1722976845 | 61 | H>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000003.12:g.150545682G>A Codon: CAT/TAT Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545682G>A Locations: - p.His61Tyr (Ensembl:ENST00000491660) - c.181C>T (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs769213933 | 62 | Q>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000003.12:g.150545679G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545679G>A Locations: - p.Gln62Ter (Ensembl:ENST00000491660) - c.184C>T (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs1722976595 | 62 | Q>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.68) Somatic: No Accession: NC_000003.12:g.150545678T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545678T>C Locations: - p.Gln62Arg (Ensembl:ENST00000491660) - c.185A>G (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs1576581990 | 63 | V>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.35) Somatic: No Accession: NC_000003.12:g.150545675A>C Codon: GTA/GGA Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545675A>C Locations: - p.Val63Gly (Ensembl:ENST00000491660) - c.188T>G (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs1722976521 | 63 | V>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.43) Somatic: No Accession: NC_000003.12:g.150545676C>T Codon: GTA/ATA Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545676C>T Locations: - p.Val63Ile (Ensembl:ENST00000491660) - c.187G>A (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs776191070 | 64 | E>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.52) Somatic: No Accession: NC_000003.12:g.150545671C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545671C>G Locations: - p.Glu64Asp (Ensembl:ENST00000491660) - c.192G>C (Ensembl:ENST00000491660) Source type: large scale study | |||||||
rs747491084 | 64 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.6) Somatic: No Accession: NC_000003.12:g.150545673C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545673C>T Locations: - p.Glu64Lys (Ensembl:ENST00000491660) - c.190G>A (Ensembl:ENST00000491660) Source type: large scale study | |||||||
rs747491084 | 64 | E>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.52) Somatic: No Accession: NC_000003.12:g.150545673C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545673C>G Locations: - p.Glu64Gln (Ensembl:ENST00000491660) - c.190G>C (Ensembl:ENST00000491660) Source type: large scale study | |||||||
rs374893493 | 65 | S>F | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.16) Somatic: No Accession: NC_000003.12:g.150545669G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545669G>A Locations: - p.Ser65Phe (Ensembl:ENST00000491660) - c.194C>T (Ensembl:ENST00000491660) Source type: large scale study | |||||||
COSV53525442 | 65 | S>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000003.12:g.150545669G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000003.12:g.150545669G>T Locations: - p.Ser65Tyr (cosmic curated:ENST00000491660) - c.194C>A (cosmic curated:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs1722975685 | 66 | W>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000003.12:g.150545665C>T Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545665C>T Locations: - p.Trp66Ter (Ensembl:ENST00000491660) - c.198G>A (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs370194424 | 66 | W>* | ESP TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000003.12:g.150545666C>T Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545666C>T Locations: - p.Trp66Ter (Ensembl:ENST00000491660) - c.197G>A (Ensembl:ENST00000491660) Source type: large scale study | |||||||
rs370194424 | 66 | W>S | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.72) Somatic: No Accession: NC_000003.12:g.150545666C>G Codon: TGG/TCG Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545666C>G Locations: - p.Trp66Ser (Ensembl:ENST00000491660) - c.197G>C (Ensembl:ENST00000491660) Source type: large scale study | |||||||
rs1576581980 | 67 | V>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.36) Somatic: No Accession: NC_000003.12:g.150545663A>C Codon: GTT/GGT Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545663A>C Locations: - p.Val67Gly (Ensembl:ENST00000491660) - c.200T>G (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs1460125762 | 72 | D>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000003.12:g.150545647A>T Codon: GAT/GAA Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545647A>T Locations: - p.Asp72Glu (Ensembl:ENST00000491660) - c.216T>A (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs745896688 | 72 | D>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000003.12:g.150545648T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545648T>C Locations: - p.Asp72Gly (Ensembl:ENST00000491660) - c.215A>G (Ensembl:ENST00000491660) Source type: large scale study | |||||||
rs1401842146 | 74 | V>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.18) Somatic: No Accession: NC_000003.12:g.150545642A>T Codon: GTG/GAG Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545642A>T Locations: - p.Val74Glu (Ensembl:ENST00000491660) - c.221T>A (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs1401842146 | 74 | V>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000003.12:g.150545642A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545642A>C Locations: - p.Val74Gly (Ensembl:ENST00000491660) - c.221T>G (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs1576581966 | 75 | V>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.150545639A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545639A>C Locations: - p.Val75Gly (Ensembl:ENST00000491660) - c.224T>G (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs527692747 | 76 | T>I | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.150545636G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545636G>A Locations: - p.Thr76Ile (Ensembl:ENST00000491660) - c.227C>T (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs1178606645 | 77 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.36) Somatic: No Accession: NC_000003.12:g.150545634C>G Codon: GGT/CGT Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545634C>G Locations: - p.Gly77Arg (Ensembl:ENST00000491660) - c.229G>C (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs1178606645 | 77 | G>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.39) Somatic: No Accession: NC_000003.12:g.150545634C>T Codon: GGT/AGT Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545634C>T Locations: - p.Gly77Ser (Ensembl:ENST00000491660) - c.229G>A (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs1454960436 | 78 | Q>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.48) Somatic: No Accession: NC_000003.12:g.150545630T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545630T>C Locations: - p.Gln78Arg (Ensembl:ENST00000491660) - c.233A>G (Ensembl:ENST00000491660) Source type: large scale study Cross-references: | |||||||
rs777539528 | 79 | *>W | ExAC TOPMed gnomAD | ||||
Consequence: stop lost Somatic: No Accession: NC_000003.12:g.150545627T>C Codon: TAG/TGG Consequence type: stop lost Cytogenetic band: 3q25.1 Genomic location: NC_000003.12:g.150545627T>C Locations: - p.Ter79TrpextTer1 (Ensembl:ENST00000491660) - c.236A>G (Ensembl:ENST00000491660) Source type: large scale study |