U3KQN5 · U3KQN5_HUMAN
- ProteinRibosome production factor 2 homolog
- GeneRPF2
- 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 | ||
---|---|---|---|---|---|---|---|
rs1771441330 | 2 | D>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000006.12:g.110982111A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110982111A>G Locations: - p.Asp2Gly (Ensembl:ENST00000607388) - c.5A>G (Ensembl:ENST00000607388) Source type: large scale study Cross-references: | |||||||
rs750781519 | 2 | D>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.559) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000006.12:g.110982110G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110982110G>C Locations: - p.Asp2His (Ensembl:ENST00000607388) - c.4G>C (Ensembl:ENST00000607388) Source type: large scale study Cross-references: | |||||||
rs150826122 | 3 | T>A | Likely benign (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000006.12:g.110982113A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110982113A>G Locations: - p.Thr3Ala (Ensembl:ENST00000607388) - c.7A>G (Ensembl:ENST00000607388) Source type: large scale study | |||||||
rs1260976688 | 3 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000006.12:g.110982114C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110982114C>T Locations: - p.Thr3Ile (Ensembl:ENST00000607388) - c.8C>T (Ensembl:ENST00000607388) Source type: large scale study Cross-references: | |||||||
rs1260976688 | 3 | T>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000006.12:g.110982114C>G Codon: ACT/AGT Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110982114C>G Locations: - p.Thr3Ser (Ensembl:ENST00000607388) - c.8C>G (Ensembl:ENST00000607388) Source type: large scale study Cross-references: | |||||||
rs746588077 | 4 | L>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.868) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.110982117T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110982117T>C Locations: - p.Leu4Pro (Ensembl:ENST00000607388) - c.11T>C (Ensembl:ENST00000607388) Source type: large scale study | |||||||
rs746588077 | 4 | L>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.816) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.110982117T>G Codon: CTG/CGG Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110982117T>G Locations: - p.Leu4Arg (Ensembl:ENST00000607388) - c.11T>G (Ensembl:ENST00000607388) Source type: large scale study | |||||||
rs1489788895 | 4 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.063) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000006.12:g.110982116C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110982116C>G Locations: - p.Leu4Val (Ensembl:ENST00000607388) - c.10C>G (Ensembl:ENST00000607388) Source type: large scale study Cross-references: | |||||||
rs139556150 | 5 | D>G | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.051) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000006.12:g.110982120A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110982120A>G Locations: - p.Asp5Gly (Ensembl:ENST00000607388) - c.14A>G (Ensembl:ENST00000607388) Source type: large scale study | |||||||
rs575020467 | 6 | R>P | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.814) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.110982123G>C Codon: CGA/CCA Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110982123G>C Locations: - p.Arg6Pro (Ensembl:ENST00000607388) - c.17G>C (Ensembl:ENST00000607388) Source type: large scale study Cross-references: | |||||||
rs1583254701 | 7 | V>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.75) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.110982126T>G Codon: GTA/GGA Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110982126T>G Locations: - p.Val7Gly (Ensembl:ENST00000607388) - c.20T>G (Ensembl:ENST00000607388) Source type: large scale study Cross-references: | |||||||
rs2114280572 | 7 | V>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.207) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000006.12:g.110982125G>C Codon: GTA/CTA Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110982125G>C Locations: - p.Val7Leu (Ensembl:ENST00000607388) - c.19G>C (Ensembl:ENST00000607388) Source type: large scale study Cross-references: | |||||||
rs1213988791 | 8 | V>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.75) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.110982129T>G Codon: GTA/GGA Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110982129T>G Locations: - p.Val8Gly (Ensembl:ENST00000607388) - c.23T>G (Ensembl:ENST00000607388) Source type: large scale study Cross-references: | |||||||
rs1562363834 | 8 | V>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000006.12:g.110982128G>T Codon: GTA/TTA Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110982128G>T Locations: - p.Val8Leu (Ensembl:ENST00000607388) - c.22G>T (Ensembl:ENST00000607388) Source type: large scale study Cross-references: | |||||||
rs2114286396 | 9 | K>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.369) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000006.12:g.110985009G>C Codon: AAG/AAC Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110985009G>C Locations: - p.Lys9Asn (Ensembl:ENST00000607388) - c.27G>C (Ensembl:ENST00000607388) Source type: large scale study Cross-references: | |||||||
rs1771500699 | 10 | P>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.921) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000006.12:g.110985010C>G Codon: CCC/GCC Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110985010C>G Locations: - p.Pro10Ala (Ensembl:ENST00000607388) - c.28C>G (Ensembl:ENST00000607388) Source type: large scale study Cross-references: | |||||||
rs1233159564 | 11 | K>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.722) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.110985013A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110985013A>G Locations: - p.Lys11Glu (Ensembl:ENST00000607388) - c.31A>G (Ensembl:ENST00000607388) Source type: large scale study Cross-references: | |||||||
rs374601209 | 12 | T>M | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.427) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000006.12:g.110985017C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110985017C>T Locations: - p.Thr12Met (Ensembl:ENST00000607388) - c.35C>T (Ensembl:ENST00000607388) Source type: large scale study | |||||||
rs374601209 | 12 | T>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.894) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.110985017C>G Codon: ACG/AGG Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110985017C>G Locations: - p.Thr12Arg (Ensembl:ENST00000607388) - c.35C>G (Ensembl:ENST00000607388) Source type: large scale study | |||||||
rs778708991 | 12 | T>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.558) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000006.12:g.110985016A>T Codon: ACG/TCG Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110985016A>T Locations: - p.Thr12Ser (Ensembl:ENST00000607388) - c.34A>T (Ensembl:ENST00000607388) Source type: large scale study Cross-references: | |||||||
rs921859725 | 15 | A>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000006.12:g.110985026C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110985026C>T Locations: - p.Ala15Val (Ensembl:ENST00000607388) - c.44C>T (Ensembl:ENST00000607388) Source type: large scale study Cross-references: | |||||||
rs1290291538 | 16 | K>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.110985028A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110985028A>G Locations: - p.Lys16Glu (Ensembl:ENST00000607388) - c.46A>G (Ensembl:ENST00000607388) Source type: large scale study Cross-references: | |||||||
rs1771501116 | 17 | R>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.845) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000006.12:g.110985032G>A Codon: AGA/AAA Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110985032G>A Locations: - p.Arg17Lys (Ensembl:ENST00000607388) - c.50G>A (Ensembl:ENST00000607388) Source type: large scale study Cross-references: | |||||||
rs1280955700 | 18 | F>L | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.502) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.110985036C>G Codon: TTC/TTG Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110985036C>G Locations: - p.Phe18Leu (Ensembl:ENST00000607388) - c.54C>G (Ensembl:ENST00000607388) Source type: large scale study Cross-references: | |||||||
rs1771501226 | 18 | F>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.127) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000006.12:g.110985034T>G Codon: TTC/GTC Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110985034T>G Locations: - p.Phe18Val (Ensembl:ENST00000607388) - c.52T>G (Ensembl:ENST00000607388) Source type: large scale study Cross-references: | |||||||
rs1485269921 | 19 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.110985037C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110985037C>T Locations: - p.Leu19Phe (Ensembl:ENST00000607388) - c.55C>T (Ensembl:ENST00000607388) Source type: large scale study Cross-references: | |||||||
rs1771501368 | 20 | E>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.139) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000006.12:g.110985042G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110985042G>C Locations: - p.Glu20Asp (Ensembl:ENST00000607388) - c.60G>C (Ensembl:ENST00000607388) Source type: large scale study Cross-references: | |||||||
rs761967267 | 22 | R>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.481) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000006.12:g.110985047G>A Codon: AGA/AAA Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110985047G>A Locations: - p.Arg22Lys (Ensembl:ENST00000607388) - c.65G>A (Ensembl:ENST00000607388) Source type: large scale study | |||||||
rs761967267 | 22 | R>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.110985047G>C Codon: AGA/ACA Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110985047G>C Locations: - p.Arg22Thr (Ensembl:ENST00000607388) - c.65G>C (Ensembl:ENST00000607388) Source type: large scale study | |||||||
rs770199655 | 23 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.834) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.110985049G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110985049G>A Locations: - p.Glu23Lys (Ensembl:ENST00000607388) - c.67G>A (Ensembl:ENST00000607388) Source type: large scale study Cross-references: | |||||||
rs144286682 | 24 | P>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000006.12:g.110985053C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110985053C>T Locations: - p.Pro24Leu (Ensembl:ENST00000607388) - c.71C>T (Ensembl:ENST00000607388) Source type: large scale study | |||||||
rs745515818 | 25 | K>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000006.12:g.110985057A>T Codon: AAA/AAT Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110985057A>T Locations: - p.Lys25Asn (Ensembl:ENST00000607388) - c.75A>T (Ensembl:ENST00000607388) Source type: large scale study Cross-references: | |||||||
rs373767397 | 26 | L>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.959) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.110985059T>G Codon: CTC/CGC Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110985059T>G Locations: - p.Leu26Arg (Ensembl:ENST00000607388) - c.77T>G (Ensembl:ENST00000607388) Source type: large scale study | |||||||
rs1446126278 | 26 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.085) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000006.12:g.110985058C>G Codon: CTC/GTC Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110985058C>G Locations: - p.Leu26Val (Ensembl:ENST00000607388) - c.76C>G (Ensembl:ENST00000607388) Source type: large scale study Cross-references: | |||||||
rs1771501830 | 28 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.110985065A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110985065A>G Locations: - p.Glu28Gly (Ensembl:ENST00000607388) - c.83A>G (Ensembl:ENST00000607388) Source type: large scale study Cross-references: | |||||||
rs751909852 | 29 | N>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.702) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000006.12:g.110985068A>C Codon: AAT/ACT Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110985068A>C Locations: - p.Asn29Thr (Ensembl:ENST00000607388) - c.86A>C (Ensembl:ENST00000607388) Source type: large scale study | |||||||
rs1376617893 | 33 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.365) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000006.12:g.110985079G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110985079G>A Locations: - p.Ala33Thr (Ensembl:ENST00000607388) - c.97G>A (Ensembl:ENST00000607388) Source type: large scale study Cross-references: | |||||||
COSV64369684 rs1436629810 | 33 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.943) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000006.12:g.110985080C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110985080C>T Locations: - p.A33V (NCI-TCGA:ENST00000607388) - p.Ala33Val (Ensembl:ENST00000607388) - c.98C>T (Ensembl:ENST00000607388) Source type: large scale study Cross-references: | |||||||
rs1434600494 | 35 | L>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.933) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.110985086T>G Codon: CTG/CGG Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110985086T>G Locations: - p.Leu35Arg (Ensembl:ENST00000607388) - c.104T>G (Ensembl:ENST00000607388) Source type: large scale study Cross-references: | |||||||
rs11544824 | 37 | K>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.238) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000006.12:g.110985092A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110985092A>G Locations: - p.Lys37Arg (Ensembl:ENST00000607388) - c.110A>G (Ensembl:ENST00000607388) Source type: large scale study Cross-references: | |||||||
rs752257582 | 39 | G>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000006.12:g.110985097G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110985097G>A Locations: - p.Gly39Arg (Ensembl:ENST00000607388) - c.115G>A (Ensembl:ENST00000607388) Source type: large scale study | |||||||
VAR_033639 rs9320350 | 41 | A>G | UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000006.12:g.110985104C>G Codon: GCA/GGA Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110985104C>G Locations: - p.Ala41Gly (UniProt:Q9H7B2) - p.Ala41Gly (Ensembl:ENST00000607388) - c.122C>G (Ensembl:ENST00000607388) Source type: mixed Cross-references: | |||||||
rs573870778 | 42 | N>H | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.977) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.110985106A>C Codon: AAT/CAT Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110985106A>C Locations: - p.Asn42His (Ensembl:ENST00000607388) - c.124A>C (Ensembl:ENST00000607388) Source type: large scale study Cross-references: | |||||||
rs753444139 | 43 | A>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.62) Somatic: No Accession: NC_000006.12:g.110985109G>T Codon: GCA/TCA Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110985109G>T Locations: - p.Ala43Ser (Ensembl:ENST00000607388) - c.127G>T (Ensembl:ENST00000607388) Source type: large scale study | |||||||
rs753444139 | 43 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000006.12:g.110985109G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110985109G>A Locations: - p.Ala43Thr (Ensembl:ENST00000607388) - c.127G>A (Ensembl:ENST00000607388) Source type: large scale study | |||||||
rs965125745 | 43 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.079) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000006.12:g.110985110C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110985110C>T Locations: - p.Ala43Val (Ensembl:ENST00000607388) - c.128C>T (Ensembl:ENST00000607388) Source type: large scale study Cross-references: | |||||||
rs976944574 | 44 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000006.12:g.110985113C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110985113C>T Locations: - p.Thr44Ile (Ensembl:ENST00000607388) - c.131C>T (Ensembl:ENST00000607388) Source type: large scale study Cross-references: | |||||||
rs778606068 | 46 | T>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.081) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000006.12:g.110985119C>G Codon: ACA/AGA Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110985119C>G Locations: - p.Thr46Arg (Ensembl:ENST00000607388) - c.137C>G (Ensembl:ENST00000607388) Source type: large scale study | |||||||
rs1274914976 | 48 | V>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.236) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000006.12:g.110985124G>C Codon: GTA/CTA Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110985124G>C Locations: - p.Val48Leu (Ensembl:ENST00000607388) - c.142G>C (Ensembl:ENST00000607388) Source type: large scale study Cross-references: | |||||||
rs772186285 | 49 | L>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000006.12:g.110985127C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110985127C>T Locations: - p.Leu49Phe (Ensembl:ENST00000607388) - c.145C>T (Ensembl:ENST00000607388) Source type: large scale study Cross-references: | |||||||
rs748308585 | 52 | V>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.122) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.110985137T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110985137T>C Locations: - p.Val52Ala (Ensembl:ENST00000607388) - c.155T>C (Ensembl:ENST00000607388) Source type: large scale study Cross-references: | |||||||
rs748308585 | 52 | V>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.441) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.110985137T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110985137T>G Locations: - p.Val52Gly (Ensembl:ENST00000607388) - c.155T>G (Ensembl:ENST00000607388) Source type: large scale study Cross-references: | |||||||
rs780130185 | 52 | V>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000006.12:g.110985136G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110985136G>A Locations: - p.Val52Met (Ensembl:ENST00000607388) - c.154G>A (Ensembl:ENST00000607388) Source type: large scale study Cross-references: | |||||||
rs1176956521 | 53 | E>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000006.12:g.110991748A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110991748A>G Locations: - p.Glu53Gly (Ensembl:ENST00000607388) - c.158A>G (Ensembl:ENST00000607388) Source type: large scale study Cross-references: | |||||||
rs1771623580 | 53 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000006.12:g.110991747G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110991747G>A Locations: - p.Glu53Lys (Ensembl:ENST00000607388) - c.157G>A (Ensembl:ENST00000607388) Source type: large scale study Cross-references: | |||||||
rs772240189 | 55 | Y>* | ExAC gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000006.12:g.110991755T>G Codon: ATT/AGT Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110991755T>G Locations: - p.Tyr55Ter (Ensembl:ENST00000607388) - c.165T>G (Ensembl:ENST00000607388) Source type: large scale study Cross-references: | |||||||
rs1016873762 | 57 | K>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.672) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000006.12:g.110991759A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110991759A>G Locations: - p.Lys57Glu (Ensembl:ENST00000607388) - c.169A>G (Ensembl:ENST00000607388) Source type: large scale study Cross-references: | |||||||
rs376778370 | 58 | T>A | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: tolerated - low confidence (0.5) Somatic: No Accession: NC_000006.12:g.110991762A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110991762A>G Locations: - p.Thr58Ala (Ensembl:ENST00000607388) - c.172A>G (Ensembl:ENST00000607388) Source type: large scale study | |||||||
rs1771624107 | 59 | F>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.343) - SIFT: tolerated - low confidence (0.28) Somatic: No Accession: NC_000006.12:g.110991765T>A Codon: TTT/ATT Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110991765T>A Locations: - p.Phe59Ile (Ensembl:ENST00000607388) - c.175T>A (Ensembl:ENST00000607388) Source type: large scale study Cross-references: | |||||||
rs1771624107 | 59 | F>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000006.12:g.110991765T>C Codon: TTT/CTT Consequence type: missense Cytogenetic band: 6q21 Genomic location: NC_000006.12:g.110991765T>C Locations: - p.Phe59Leu (Ensembl:ENST00000607388) - c.175T>C (Ensembl:ENST00000607388) Source type: large scale study Cross-references: |