H0YJC4 · H0YJC4_HUMAN
- ProteinProteasome 20S subunit alpha 6
- GenePSMA6
- 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 | ||
---|---|---|---|---|---|---|---|
rs1469178688 | 5 | D>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000014.9:g.35310844G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 14q13.2 Genomic location: NC_000014.9:g.35310844G>A Locations: - p.Asp5Asn (Ensembl:ENST00000556221) - c.13G>A (Ensembl:ENST00000556221) Source type: large scale study Cross-references: | |||||||
rs2051931050 | 8 | Q>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.35310853C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 14q13.2 Genomic location: NC_000014.9:g.35310853C>G Locations: - p.Gln8Glu (Ensembl:ENST00000556221) - c.22C>G (Ensembl:ENST00000556221) Source type: large scale study Cross-references: | |||||||
rs2051931197 | 9 | V>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.068) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000014.9:g.35310856G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 14q13.2 Genomic location: NC_000014.9:g.35310856G>A Locations: - p.Val9Ile (Ensembl:ENST00000556221) - c.25G>A (Ensembl:ENST00000556221) Source type: large scale study Cross-references: | |||||||
COSV54837907 rs760361768 | 14 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.977) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.000003983 (gnomAD) Accession: NC_000014.9:g.35310872C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 14q13.2 Genomic location: NC_000014.9:g.35310872C>T Locations: - p.A14V (NCI-TCGA:ENST00000556221) - p.Ala14Val (Ensembl:ENST00000556221) - c.41C>T (Ensembl:ENST00000556221) Source type: large scale study | |||||||
rs1285517145 | 16 | M>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.048) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000014.9:g.35310877A>T Codon: ATG/TTG Consequence type: missense Cytogenetic band: 14q13.2 Genomic location: NC_000014.9:g.35310877A>T Locations: - p.Met16Leu (Ensembl:ENST00000556221) - c.46A>T (Ensembl:ENST00000556221) Source type: large scale study Cross-references: | |||||||
rs763862363 | 18 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.464) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000014.9:g.35310883C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 14q13.2 Genomic location: NC_000014.9:g.35310883C>T Locations: - p.Pro18Ser (Ensembl:ENST00000556221) - c.52C>T (Ensembl:ENST00000556221) Source type: large scale study | |||||||
rs1566562088 | 20 | G>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.35310889G>T Codon: GGT/TGT Consequence type: missense Cytogenetic band: 14q13.2 Genomic location: NC_000014.9:g.35310889G>T Locations: - p.Gly20Cys (Ensembl:ENST00000556221) - c.58G>T (Ensembl:ENST00000556221) Source type: large scale study Cross-references: | |||||||
rs1437506776 | 22 | C>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.129) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000014.9:g.35310895T>C Codon: TGT/CGT Consequence type: missense Cytogenetic band: 14q13.2 Genomic location: NC_000014.9:g.35310895T>C Locations: - p.Cys22Arg (Ensembl:ENST00000556221) - c.64T>C (Ensembl:ENST00000556221) Source type: large scale study Cross-references: | |||||||
rs1349675642 | 23 | M>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000014.9:g.35312885G>T Codon: ATG/ATT Consequence type: missense Cytogenetic band: 14q13.2 Genomic location: NC_000014.9:g.35312885G>T Locations: - p.Met23Ile (Ensembl:ENST00000556221) - c.69G>T (Ensembl:ENST00000556221) Source type: large scale study Cross-references: | |||||||
rs2051971629 | 25 | L>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000014.9:g.35312891A>C Codon: TTA/TTC Consequence type: missense Cytogenetic band: 14q13.2 Genomic location: NC_000014.9:g.35312891A>C Locations: - p.Leu25Phe (Ensembl:ENST00000556221) - c.75A>C (Ensembl:ENST00000556221) Source type: large scale study Cross-references: | |||||||
rs774976342 | 26 | I>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.794) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.35312893T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 14q13.2 Genomic location: NC_000014.9:g.35312893T>C Locations: - p.Ile26Thr (Ensembl:ENST00000556221) - c.77T>C (Ensembl:ENST00000556221) Source type: large scale study | |||||||
rs760285513 | 29 | D>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.973) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.35312902A>T Codon: GAT/GTT Consequence type: missense Cytogenetic band: 14q13.2 Genomic location: NC_000014.9:g.35312902A>T Locations: - p.Asp29Val (Ensembl:ENST00000556221) - c.86A>T (Ensembl:ENST00000556221) Source type: large scale study | |||||||
rs138406054 | 33 | G>C | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.35312913G>T Codon: GGC/TGC Consequence type: missense Cytogenetic band: 14q13.2 Genomic location: NC_000014.9:g.35312913G>T Locations: - p.Gly33Cys (Ensembl:ENST00000556221) - c.97G>T (Ensembl:ENST00000556221) Source type: large scale study | |||||||
rs776315295 | 33 | G>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.977) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000014.9:g.35312914G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 14q13.2 Genomic location: NC_000014.9:g.35312914G>A Locations: - p.Gly33Asp (Ensembl:ENST00000556221) - c.98G>A (Ensembl:ENST00000556221) Source type: large scale study | |||||||
COSV54838071 rs2138755940 | 35 | Q>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000014.9:g.35312920A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 14q13.2 Genomic location: NC_000014.9:g.35312920A>G Locations: - p.Q35R (NCI-TCGA:ENST00000556221) - p.Gln35Arg (Ensembl:ENST00000556221) - c.104A>G (Ensembl:ENST00000556221) Source type: large scale study Cross-references: | |||||||
rs750763952 | 36 | T>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000014.9:g.35314361A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: 14q13.2 Genomic location: NC_000014.9:g.35314361A>G Locations: - p.Thr36Ala (Ensembl:ENST00000556221) - c.106A>G (Ensembl:ENST00000556221) Source type: large scale study Cross-references: | |||||||
rs1489819622 | 37 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000014.9:g.35314365C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 14q13.2 Genomic location: NC_000014.9:g.35314365C>T Locations: - p.Ala37Val (Ensembl:ENST00000556221) - c.110C>T (Ensembl:ENST00000556221) Source type: large scale study Cross-references: | |||||||
rs2051999605 | 38 | I>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.324) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000014.9:g.35314367A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 14q13.2 Genomic location: NC_000014.9:g.35314367A>G Locations: - p.Ile38Val (Ensembl:ENST00000556221) - c.112A>G (Ensembl:ENST00000556221) Source type: large scale study Cross-references: | |||||||
rs1173712576 | 39 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.038) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000014.9:g.35314371C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 14q13.2 Genomic location: NC_000014.9:g.35314371C>T Locations: - p.Thr39Ile (Ensembl:ENST00000556221) - c.116C>T (Ensembl:ENST00000556221) Source type: large scale study Cross-references: | |||||||
rs1173712576 | 39 | T>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.038) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000014.9:g.35314371C>G Codon: ACA/AGA Consequence type: missense Cytogenetic band: 14q13.2 Genomic location: NC_000014.9:g.35314371C>G Locations: - p.Thr39Arg (Ensembl:ENST00000556221) - c.116C>G (Ensembl:ENST00000556221) Source type: large scale study Cross-references: | |||||||
rs143235746 | 44 | V>I | ESP TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.076) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000014.9:g.35314385G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 14q13.2 Genomic location: NC_000014.9:g.35314385G>A Locations: - p.Val44Ile (Ensembl:ENST00000556221) - c.130G>A (Ensembl:ENST00000556221) Source type: large scale study Cross-references: | |||||||
rs746507286 | 47 | I>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.56) Somatic: No Accession: NC_000014.9:g.35314394A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 14q13.2 Genomic location: NC_000014.9:g.35314394A>G Locations: - p.Ile47Val (Ensembl:ENST00000556221) - c.139A>G (Ensembl:ENST00000556221) Source type: large scale study Cross-references: | |||||||
rs2052000216 | 48 | D>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.749) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000014.9:g.35314397G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 14q13.2 Genomic location: NC_000014.9:g.35314397G>A Locations: - p.Asp48Asn (Ensembl:ENST00000556221) - c.142G>A (Ensembl:ENST00000556221) Source type: large scale study Cross-references: | |||||||
rs1279244271 | 56 | V>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.884) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000014.9:g.35314421G>T Codon: GTT/TTT Consequence type: missense Cytogenetic band: 14q13.2 Genomic location: NC_000014.9:g.35314421G>T Locations: - p.Val56Phe (Ensembl:ENST00000556221) - c.166G>T (Ensembl:ENST00000556221) Source type: large scale study Cross-references: | |||||||
rs1279244271 | 56 | V>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.046) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000014.9:g.35314421G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 14q13.2 Genomic location: NC_000014.9:g.35314421G>A Locations: - p.Val56Ile (Ensembl:ENST00000556221) - c.166G>A (Ensembl:ENST00000556221) Source type: large scale study Cross-references: | |||||||
rs768158066 | 58 | V>I | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000014.9:g.35314427G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 14q13.2 Genomic location: NC_000014.9:g.35314427G>A Locations: - p.Val58Ile (Ensembl:ENST00000556221) - c.172G>A (Ensembl:ENST00000556221) Source type: large scale study | |||||||
rs376971702 | 61 | V>A | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.67) Somatic: No Accession: NC_000014.9:g.35314437T>C Codon: GTT/GCT Consequence type: missense Cytogenetic band: 14q13.2 Genomic location: NC_000014.9:g.35314437T>C Locations: - p.Val61Ala (Ensembl:ENST00000556221) - c.182T>C (Ensembl:ENST00000556221) Source type: large scale study | |||||||
rs2052000575 | 64 | P>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000014.9:g.35314446C>G Codon: CCT/CGT Consequence type: missense Cytogenetic band: 14q13.2 Genomic location: NC_000014.9:g.35314446C>G Locations: - p.Pro64Arg (Ensembl:ENST00000556221) - c.191C>G (Ensembl:ENST00000556221) Source type: large scale study Cross-references: | |||||||
rs769544925 | 65 | K>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000014.9:g.35314448A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 14q13.2 Genomic location: NC_000014.9:g.35314448A>G Locations: - p.Lys65Glu (Ensembl:ENST00000556221) - c.193A>G (Ensembl:ENST00000556221) Source type: large scale study Cross-references: | |||||||
rs1322870765 | 67 | R>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.554) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000014.9:g.35314454A>G Codon: AGG/GGG Consequence type: missense Cytogenetic band: 14q13.2 Genomic location: NC_000014.9:g.35314454A>G Locations: - p.Arg67Gly (Ensembl:ENST00000556221) - c.199A>G (Ensembl:ENST00000556221) Source type: large scale study Cross-references: | |||||||
rs777406809 | 70 | T>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000014.9:g.35317256A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 14q13.2 Genomic location: NC_000014.9:g.35317256A>G Locations: - p.Thr70Ala (Ensembl:ENST00000556221) - c.208A>G (Ensembl:ENST00000556221) Source type: large scale study Cross-references: | |||||||
rs897244046 | 72 | A>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000014.9:g.35317262G>T Codon: GCA/TCA Consequence type: missense Cytogenetic band: 14q13.2 Genomic location: NC_000014.9:g.35317262G>T Locations: - p.Ala72Ser (Ensembl:ENST00000556221) - c.214G>T (Ensembl:ENST00000556221) Source type: large scale study Cross-references: | |||||||
rs756827466 | 73 | E>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.455) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.35317266A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 14q13.2 Genomic location: NC_000014.9:g.35317266A>C Locations: - p.Glu73Ala (Ensembl:ENST00000556221) - c.218A>C (Ensembl:ENST00000556221) Source type: large scale study Cross-references: | |||||||
rs1475657546 | 73 | E>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.227) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000014.9:g.35317267G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 14q13.2 Genomic location: NC_000014.9:g.35317267G>T Locations: - p.Glu73Asp (Ensembl:ENST00000556221) - c.219G>T (Ensembl:ENST00000556221) Source type: large scale study Cross-references: | |||||||
rs891653513 | 74 | I>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.799) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.35317270T>G Codon: ATT/ATG Consequence type: missense Cytogenetic band: 14q13.2 Genomic location: NC_000014.9:g.35317270T>G Locations: - p.Ile74Met (Ensembl:ENST00000556221) - c.222T>G (Ensembl:ENST00000556221) Source type: large scale study Cross-references: | |||||||
rs778817162 | 76 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000014.9:g.35317274G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 14q13.2 Genomic location: NC_000014.9:g.35317274G>A Locations: - p.Ala76Thr (Ensembl:ENST00000556221) - c.226G>A (Ensembl:ENST00000556221) Source type: large scale study | |||||||
rs1359922105 | 76 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000014.9:g.35317275C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 14q13.2 Genomic location: NC_000014.9:g.35317275C>T Locations: - p.Ala76Val (Ensembl:ENST00000556221) - c.227C>T (Ensembl:ENST00000556221) Source type: large scale study Cross-references: | |||||||
rs745601960 | 77 | H>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000014.9:g.35317278A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 14q13.2 Genomic location: NC_000014.9:g.35317278A>G Locations: - p.His77Arg (Ensembl:ENST00000556221) - c.230A>G (Ensembl:ENST00000556221) Source type: large scale study Cross-references: | |||||||
rs2052062372 | 79 | V>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.491) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.35317283G>T Codon: GTT/TTT Consequence type: missense Cytogenetic band: 14q13.2 Genomic location: NC_000014.9:g.35317283G>T Locations: - p.Val79Phe (Ensembl:ENST00000556221) - c.235G>T (Ensembl:ENST00000556221) Source type: large scale study Cross-references: | |||||||
rs1236899326 | 80 | A>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.472) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000014.9:g.35317287C>G Codon: GCT/GGT Consequence type: missense Cytogenetic band: 14q13.2 Genomic location: NC_000014.9:g.35317287C>G Locations: - p.Ala80Gly (Ensembl:ENST00000556221) - c.239C>G (Ensembl:ENST00000556221) Source type: large scale study Cross-references: | |||||||
COSV54839143 rs1236899326 | 80 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.199) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000014.9:g.35317287C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 14q13.2 Genomic location: NC_000014.9:g.35317287C>T Locations: - p.A80V (NCI-TCGA:ENST00000556221) - p.Ala80Val (Ensembl:ENST00000556221) - c.239C>T (Ensembl:ENST00000556221) Source type: large scale study Cross-references: | |||||||
rs2052062613 | 81 | L>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.586) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000014.9:g.35317290T>C Codon: CTA/CCA Consequence type: missense Cytogenetic band: 14q13.2 Genomic location: NC_000014.9:g.35317290T>C Locations: - p.Leu81Pro (Ensembl:ENST00000556221) - c.242T>C (Ensembl:ENST00000556221) Source type: large scale study Cross-references: | |||||||
rs775340877 | 81 | L>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000014.9:g.35317289C>G Codon: CTA/GTA Consequence type: missense Cytogenetic band: 14q13.2 Genomic location: NC_000014.9:g.35317289C>G Locations: - p.Leu81Val (Ensembl:ENST00000556221) - c.241C>G (Ensembl:ENST00000556221) Source type: large scale study Cross-references: | |||||||
rs879068135 | 82 | A>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.079) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000014.9:g.35317292G>T Codon: GCA/TCA Consequence type: missense Cytogenetic band: 14q13.2 Genomic location: NC_000014.9:g.35317292G>T Locations: - p.Ala82Ser (Ensembl:ENST00000556221) - c.244G>T (Ensembl:ENST00000556221) Source type: large scale study Cross-references: | |||||||
rs150905180 | 85 | D>E | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.318) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000014.9:g.35317303C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 14q13.2 Genomic location: NC_000014.9:g.35317303C>G Locations: - p.Asp85Glu (Ensembl:ENST00000556221) - c.255C>G (Ensembl:ENST00000556221) Source type: large scale study | |||||||
rs1456829527 | 86 | *>Y | Ensembl | ||||
Consequence: stop lost Somatic: No Accession: NC_000014.9:g.35317306A>C Codon: TAA/TAC Consequence type: stop lost Cytogenetic band: 14q13.2 Genomic location: NC_000014.9:g.35317306A>C Locations: - p.Ter86TyrextTer18 (Ensembl:ENST00000556221) - c.258A>C (Ensembl:ENST00000556221) Source type: large scale study Cross-references: |