A0A1B0GTE0 · A0A1B0GTE0_HUMAN
- ProteinCholinergic receptor nicotinic alpha 7 subunit
- GeneCHRNA7
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids
- Protein existencePredicted
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs1446173075 | 2 | G>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.32158589G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 15q13.3 Genomic location: NC_000015.10:g.32158589G>A Locations: - p.Gly2Glu (Ensembl:ENST00000637348) - c.5G>A (Ensembl:ENST00000637348) Source type: large scale study Cross-references: | |||||||
rs762682577 | 2 | G>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.32158588G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 15q13.3 Genomic location: NC_000015.10:g.32158588G>A Locations: - p.Gly2Arg (Ensembl:ENST00000637348) - c.4G>A (Ensembl:ENST00000637348) Source type: large scale study Cross-references: | |||||||
rs1307722909 | 4 | K>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.32158594A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 15q13.3 Genomic location: NC_000015.10:g.32158594A>G Locations: - p.Lys4Glu (Ensembl:ENST00000637348) - c.10A>G (Ensembl:ENST00000637348) Source type: large scale study Cross-references: | |||||||
rs199802730 | 8 | G>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.934) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.32158606G>T Codon: GGG/TGG Consequence type: missense Cytogenetic band: 15q13.3 Genomic location: NC_000015.10:g.32158606G>T Locations: - p.Gly8Trp (Ensembl:ENST00000637348) - c.22G>T (Ensembl:ENST00000637348) Source type: large scale study Cross-references: | |||||||
rs1430937701 | 9 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.049) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.32159571A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 15q13.3 Genomic location: NC_000015.10:g.32159571A>G Locations: - p.Ile9Val (Ensembl:ENST00000637348) - c.25A>G (Ensembl:ENST00000637348) Source type: large scale study Cross-references: | |||||||
rs1354270768 | 14 | S>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.966) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.32159587C>G Codon: TCT/TGT Consequence type: missense Cytogenetic band: 15q13.3 Genomic location: NC_000015.10:g.32159587C>G Locations: - p.Ser14Cys (Ensembl:ENST00000637348) - c.41C>G (Ensembl:ENST00000637348) Source type: large scale study Cross-references: | |||||||
rs774309737 | 14 | S>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.95) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.32159586T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: 15q13.3 Genomic location: NC_000015.10:g.32159586T>C Locations: - p.Ser14Pro (Ensembl:ENST00000637348) - c.40T>C (Ensembl:ENST00000637348) Source type: large scale study Cross-references: | |||||||
rs767493351 | 17 | V>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.721) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000015.10:g.32159595G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 15q13.3 Genomic location: NC_000015.10:g.32159595G>A Locations: - p.Val17Ile (Ensembl:ENST00000637348) - c.49G>A (Ensembl:ENST00000637348) Source type: large scale study Cross-references: | |||||||
rs1865337811 | 19 | M>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.32159601A>T Codon: ATG/TTG Consequence type: missense Cytogenetic band: 15q13.3 Genomic location: NC_000015.10:g.32159601A>T Locations: - p.Met19Leu (Ensembl:ENST00000637348) - c.55A>T (Ensembl:ENST00000637348) Source type: large scale study Cross-references: | |||||||
rs752642520 | 20 | L>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.295) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.32159605T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: 15q13.3 Genomic location: NC_000015.10:g.32159605T>A Locations: - p.Leu20Gln (Ensembl:ENST00000637348) - c.59T>A (Ensembl:ENST00000637348) Source type: large scale study Cross-references: | |||||||
rs1235317163 | 21 | L>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.586) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.32159607C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 15q13.3 Genomic location: NC_000015.10:g.32159607C>T Locations: - p.Leu21Phe (Ensembl:ENST00000637348) - c.61C>T (Ensembl:ENST00000637348) Source type: large scale study Cross-references: | |||||||
rs764126247 | 22 | V>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.731) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.32159610G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 15q13.3 Genomic location: NC_000015.10:g.32159610G>A Locations: - p.Val22Met (Ensembl:ENST00000637348) - c.64G>A (Ensembl:ENST00000637348) Source type: large scale study Cross-references: | |||||||
rs532485785 | 28 | A>P | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000015.10:g.32159628G>C Codon: GCA/CCA Consequence type: missense Cytogenetic band: 15q13.3 Genomic location: NC_000015.10:g.32159628G>C Locations: - p.Ala28Pro (Ensembl:ENST00000637348) - c.82G>C (Ensembl:ENST00000637348) Source type: large scale study | |||||||
rs532485785 | 28 | A>S | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000015.10:g.32159628G>T Codon: GCA/TCA Consequence type: missense Cytogenetic band: 15q13.3 Genomic location: NC_000015.10:g.32159628G>T Locations: - p.Ala28Ser (Ensembl:ENST00000637348) - c.82G>T (Ensembl:ENST00000637348) Source type: large scale study | |||||||
COSV100181734 rs532485785 | 28 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated 1000Genomes TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000015.10:g.32159628G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 15q13.3 Genomic location: NC_000015.10:g.32159628G>A Locations: - p.A28T (NCI-TCGA:ENST00000637348) - p.Ala28Thr (Ensembl:ENST00000637348) - c.82G>A (Ensembl:ENST00000637348) Source type: large scale study | |||||||
COSV60973260 rs757497721 | 32 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.162) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00001184 (gnomAD) Accession: NC_000015.10:g.32159641C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 15q13.3 Genomic location: NC_000015.10:g.32159641C>T Locations: - p.S32L (NCI-TCGA:ENST00000637348) - p.Ser32Leu (Ensembl:ENST00000637348) - c.95C>T (Ensembl:ENST00000637348) Source type: large scale study | |||||||
rs2051867006 | 33 | V>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.224) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.32159644T>C Codon: GTA/GCA Consequence type: missense Cytogenetic band: 15q13.3 Genomic location: NC_000015.10:g.32159644T>C Locations: - p.Val33Ala (Ensembl:ENST00000637348) - c.98T>C (Ensembl:ENST00000637348) Source type: large scale study Cross-references: | |||||||
rs1444724222 | 41 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.32163237G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 15q13.3 Genomic location: NC_000015.10:g.32163237G>A Locations: - p.Ala41Thr (Ensembl:ENST00000637348) - c.121G>A (Ensembl:ENST00000637348) Source type: large scale study Cross-references: | |||||||
rs201870148 | 44 | M>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.124) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.32163246A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 15q13.3 Genomic location: NC_000015.10:g.32163246A>G Locations: - p.Met44Val (Ensembl:ENST00000637348) - c.130A>G (Ensembl:ENST00000637348) Source type: large scale study Cross-references: | |||||||
rs774080123 | 45 | I>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: tolerated - low confidence (0.16) Somatic: No Accession: NC_000015.10:g.32163251C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 15q13.3 Genomic location: NC_000015.10:g.32163251C>G Locations: - p.Ile45Met (Ensembl:ENST00000637348) - c.135C>G (Ensembl:ENST00000637348) Source type: large scale study Cross-references: | |||||||
COSV105125716 rs1260729273 | 53 | V>A | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: Yes Accession: NC_000015.10:g.32163274T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 15q13.3 Genomic location: NC_000015.10:g.32163274T>C Locations: - p.Val53Ala (Ensembl:ENST00000637348) - c.158T>C (Ensembl:ENST00000637348) Source type: large scale study Cross-references: | |||||||
rs2141402961 | 53 | V>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000015.10:g.32163273G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 15q13.3 Genomic location: NC_000015.10:g.32163273G>A Locations: - p.Val53Met (Ensembl:ENST00000637348) - c.157G>A (Ensembl:ENST00000637348) Source type: large scale study Cross-references: | |||||||
rs775331096 | 54 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.948) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.32163277C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 15q13.3 Genomic location: NC_000015.10:g.32163277C>T Locations: - p.Thr54Ile (Ensembl:ENST00000637348) - c.161C>T (Ensembl:ENST00000637348) Source type: large scale study Cross-references: | |||||||
rs1273363219 | 55 | V>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.271) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.32163279G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 15q13.3 Genomic location: NC_000015.10:g.32163279G>C Locations: - p.Val55Leu (Ensembl:ENST00000637348) - c.163G>C (Ensembl:ENST00000637348) Source type: large scale study Cross-references: | |||||||
rs2051957015 | 56 | I>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.079) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.32163283T>G Codon: ATC/AGC Consequence type: missense Cytogenetic band: 15q13.3 Genomic location: NC_000015.10:g.32163283T>G Locations: - p.Ile56Ser (Ensembl:ENST00000637348) - c.167T>G (Ensembl:ENST00000637348) Source type: large scale study Cross-references: | |||||||
rs1207947821 | 57 | V>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.957) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.32163285G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 15q13.3 Genomic location: NC_000015.10:g.32163285G>A Locations: - p.V57M (NCI-TCGA:ENST00000637348) - p.Val57Met (Ensembl:ENST00000637348) - c.169G>A (Ensembl:ENST00000637348) Source type: large scale study | |||||||
rs1566887133 | 60 | Y>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000015.10:g.32163295A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 15q13.3 Genomic location: NC_000015.10:g.32163295A>G Locations: - p.Tyr60Cys (Ensembl:ENST00000637348) - c.179A>G (Ensembl:ENST00000637348) Source type: large scale study Cross-references: | |||||||
rs1327216245 | 64 | D>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NC_000015.10:g.32163306G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 15q13.3 Genomic location: NC_000015.10:g.32163306G>A Locations: - p.Asp64Asn (Ensembl:ENST00000637348) - c.190G>A (Ensembl:ENST00000637348) Source type: large scale study Cross-references: | |||||||
rs199633275 | 65 | P>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.075) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.32163310C>G Codon: CCC/CGC Consequence type: missense Cytogenetic band: 15q13.3 Genomic location: NC_000015.10:g.32163310C>G Locations: - p.Pro65Arg (Ensembl:ENST00000637348) - c.194C>G (Ensembl:ENST00000637348) Source type: large scale study Cross-references: | |||||||
rs758626830 | 66 | D>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000015.10:g.32163314C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: 15q13.3 Genomic location: NC_000015.10:g.32163314C>A Locations: - p.Asp66Glu (Ensembl:ENST00000637348) - c.198C>A (Ensembl:ENST00000637348) Source type: large scale study Cross-references: | |||||||
rs750704767 | 66 | D>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.76) Somatic: No Accession: NC_000015.10:g.32163312G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 15q13.3 Genomic location: NC_000015.10:g.32163312G>A Locations: - p.Asp66Asn (Ensembl:ENST00000637348) - c.196G>A (Ensembl:ENST00000637348) Source type: large scale study Cross-references: | |||||||
rs780324480 | 67 | G>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.32163316G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 15q13.3 Genomic location: NC_000015.10:g.32163316G>A Locations: - p.Gly67Glu (Ensembl:ENST00000637348) - c.200G>A (Ensembl:ENST00000637348) Source type: large scale study Cross-references: | |||||||
rs2051959031 | 67 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.32163315G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 15q13.3 Genomic location: NC_000015.10:g.32163315G>A Locations: - p.Gly67Arg (Ensembl:ENST00000637348) - c.199G>A (Ensembl:ENST00000637348) Source type: large scale study Cross-references: | |||||||
rs563560447 | 68 | G>S | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000015.10:g.32163318G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 15q13.3 Genomic location: NC_000015.10:g.32163318G>A Locations: - p.Gly68Ser (Ensembl:ENST00000637348) - c.202G>A (Ensembl:ENST00000637348) Source type: large scale study | |||||||
rs1595523114 | 70 | M>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.046) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.32163324A>C Codon: ATG/CTG Consequence type: missense Cytogenetic band: 15q13.3 Genomic location: NC_000015.10:g.32163324A>C Locations: - p.Met70Leu (Ensembl:ENST00000637348) - c.208A>C (Ensembl:ENST00000637348) Source type: large scale study Cross-references: | |||||||
rs781741466 | 73 | W>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.81) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.32163335G>C Codon: TGG/TGC Consequence type: missense Cytogenetic band: 15q13.3 Genomic location: NC_000015.10:g.32163335G>C Locations: - p.Trp73Cys (Ensembl:ENST00000637348) - c.219G>C (Ensembl:ENST00000637348) Source type: large scale study Cross-references: | |||||||
rs543708553 | 75 | P>L | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000015.10:g.32165670C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 15q13.3 Genomic location: NC_000015.10:g.32165670C>T Locations: - p.Pro75Leu (Ensembl:ENST00000637348) - c.224C>T (Ensembl:ENST00000637348) Source type: large scale study Cross-references: | |||||||
rs543708553 | 75 | P>Q | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000015.10:g.32165670C>A Codon: CCG/CAG Consequence type: missense Cytogenetic band: 15q13.3 Genomic location: NC_000015.10:g.32165670C>A Locations: - p.Pro75Gln (Ensembl:ENST00000637348) - c.224C>A (Ensembl:ENST00000637348) Source type: large scale study Cross-references: | |||||||
rs2052068792 | 76 | R>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated - low confidence (0.24) Somatic: No Accession: NC_000015.10:g.32165673G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 15q13.3 Genomic location: NC_000015.10:g.32165673G>A Locations: - p.Arg76Lys (Ensembl:ENST00000637348) - c.227G>A (Ensembl:ENST00000637348) Source type: large scale study Cross-references: | |||||||
rs1240691021 | 77 | D>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.32165676A>C Codon: GAC/GCC Consequence type: missense Cytogenetic band: 15q13.3 Genomic location: NC_000015.10:g.32165676A>C Locations: - p.Asp77Ala (Ensembl:ENST00000637348) - c.230A>C (Ensembl:ENST00000637348) Source type: large scale study Cross-references: | |||||||
rs1205208930 | 77 | D>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000015.10:g.32165677C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 15q13.3 Genomic location: NC_000015.10:g.32165677C>G Locations: - p.Asp77Glu (Ensembl:ENST00000637348) - c.231C>G (Ensembl:ENST00000637348) Source type: large scale study Cross-references: | |||||||
rs1257086819 | 79 | Y>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.611) Somatic: No Accession: NC_000015.10:g.32165682A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 15q13.3 Genomic location: NC_000015.10:g.32165682A>G Locations: - p.Tyr79Cys (Ensembl:ENST00000637348) - c.236A>G (Ensembl:ENST00000637348) Source type: large scale study Cross-references: | |||||||
rs2052070465 | 81 | D>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) Somatic: No Accession: NC_000015.10:g.32165689T>A Codon: GAT/GAA Consequence type: missense Cytogenetic band: 15q13.3 Genomic location: NC_000015.10:g.32165689T>A Locations: - p.Asp81Glu (Ensembl:ENST00000637348) - c.243T>A (Ensembl:ENST00000637348) Source type: large scale study Cross-references: | |||||||
rs2052070283 | 81 | D>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) Somatic: No Accession: NC_000015.10:g.32165688A>T Codon: GAT/GTT Consequence type: missense Cytogenetic band: 15q13.3 Genomic location: NC_000015.10:g.32165688A>T Locations: - p.Asp81Val (Ensembl:ENST00000637348) - c.242A>T (Ensembl:ENST00000637348) Source type: large scale study Cross-references: | |||||||
rs563597423 | 84 | L>P | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.364) Somatic: No Accession: NC_000015.10:g.32165697T>C Codon: CTA/CCA Consequence type: missense Cytogenetic band: 15q13.3 Genomic location: NC_000015.10:g.32165697T>C Locations: - p.Leu84Pro (Ensembl:ENST00000637348) - c.251T>C (Ensembl:ENST00000637348) Source type: large scale study Cross-references: |