O88398 · AVIL_MOUSE
- ProteinAdvillin
- GeneAvil
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids819 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3389140756 | 11 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.25) Somatic: No Accession: NC_000076.7:g.126839285G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.126839285G>A Locations: - p.Ser11Asn (Ensembl:ENSMUST00000026500) - c.32G>A (Ensembl:ENSMUST00000026500) - p.Ser11Asn (Ensembl:ENSMUST00000129173) - c.32G>A (Ensembl:ENSMUST00000129173) Source type: large scale study Cross-references: | |||||||
rs13480819 | 15 | R>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000076.7:g.126839296C>G Codon: CGG/GGG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.126839296C>G Locations: - p.Arg15Gly (Ensembl:ENSMUST00000026500) - c.43C>G (Ensembl:ENSMUST00000026500) - p.Arg15Gly (Ensembl:ENSMUST00000129173) - c.43C>G (Ensembl:ENSMUST00000129173) Source type: large scale study Cross-references: | |||||||
rs3389132648 | 75 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000076.7:g.126842446C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.126842446C>T Locations: - p.Ala75Val (Ensembl:ENSMUST00000026500) - c.224C>T (Ensembl:ENSMUST00000026500) - p.Ala75Val (Ensembl:ENSMUST00000129173) - c.224C>T (Ensembl:ENSMUST00000129173) Source type: large scale study Cross-references: | |||||||
rs37817858 | 102 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000076.7:g.126842526G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.126842526G>A Locations: - p.Asp102Asn (Ensembl:ENSMUST00000026500) - c.304G>A (Ensembl:ENSMUST00000026500) - p.Asp102Asn (Ensembl:ENSMUST00000129173) - c.304G>A (Ensembl:ENSMUST00000129173) Source type: large scale study Cross-references: | |||||||
rs3389118565 | 116 | K>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000076.7:g.126843417A>T Codon: AAG/TAG Consequence type: stop gained Cytogenetic band: 10q Genomic location: NC_000076.7:g.126843417A>T Locations: - p.Lys116Ter (Ensembl:ENSMUST00000026500) - c.346A>T (Ensembl:ENSMUST00000026500) - p.Lys116Ter (Ensembl:ENSMUST00000129173) - c.346A>T (Ensembl:ENSMUST00000129173) Source type: large scale study Cross-references: | |||||||
rs3389127987 | 117 | G>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.126843420G>T Codon: GGG/TGG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.126843420G>T Locations: - p.Gly117Trp (Ensembl:ENSMUST00000026500) - c.349G>T (Ensembl:ENSMUST00000026500) - p.Gly117Trp (Ensembl:ENSMUST00000129173) - c.349G>T (Ensembl:ENSMUST00000129173) Source type: large scale study Cross-references: | |||||||
rs3401746306 | 120 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.126843430C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.126843430C>T Locations: - p.Ala120Val (Ensembl:ENSMUST00000026500) - c.359C>T (Ensembl:ENSMUST00000026500) - p.Ala120Val (Ensembl:ENSMUST00000129173) - c.359C>T (Ensembl:ENSMUST00000129173) Source type: large scale study Cross-references: | |||||||
rs3389102112 | 148 | T>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000076.7:g.126843514C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.126843514C>T Locations: - p.Thr148Met (Ensembl:ENSMUST00000026500) - c.443C>T (Ensembl:ENSMUST00000026500) - p.Thr148Met (Ensembl:ENSMUST00000129173) - c.443C>T (Ensembl:ENSMUST00000129173) Source type: large scale study Cross-references: | |||||||
rs37067843 | 159 | R>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.61) Somatic: No Accession: NC_000076.7:g.126843637G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.126843637G>A Locations: - p.Arg159Gln (Ensembl:ENSMUST00000026500) - c.476G>A (Ensembl:ENSMUST00000026500) - p.Arg159Gln (Ensembl:ENSMUST00000129173) - c.476G>A (Ensembl:ENSMUST00000129173) Source type: large scale study Cross-references: | |||||||
rs3389132723 | 165 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.126843655T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.126843655T>C Locations: - p.Leu165Pro (Ensembl:ENSMUST00000026500) - c.494T>C (Ensembl:ENSMUST00000026500) - p.Leu165Pro (Ensembl:ENSMUST00000129173) - c.494T>C (Ensembl:ENSMUST00000129173) Source type: large scale study Cross-references: | |||||||
rs3389129658 | 169 | M>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000076.7:g.126843666A>T Codon: ATG/TTG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.126843666A>T Locations: - p.Met169Leu (Ensembl:ENSMUST00000026500) - c.505A>T (Ensembl:ENSMUST00000026500) - p.Met169Leu (Ensembl:ENSMUST00000129173) - c.505A>T (Ensembl:ENSMUST00000129173) Source type: large scale study Cross-references: | |||||||
rs3389131978 | 195 | R>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000076.7:g.126844026G>T Codon: CGG/CTG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.126844026G>T Locations: - p.Arg195Leu (Ensembl:ENSMUST00000026500) - c.584G>T (Ensembl:ENSMUST00000026500) - p.Arg195Leu (Ensembl:ENSMUST00000129173) - c.584G>T (Ensembl:ENSMUST00000129173) Source type: large scale study Cross-references: | |||||||
rs258820525 | 238 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000076.7:g.126844154T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.126844154T>C Locations: - p.Ser238Pro (Ensembl:ENSMUST00000026500) - c.712T>C (Ensembl:ENSMUST00000026500) - p.Ser238Pro (Ensembl:ENSMUST00000129173) - c.712T>C (Ensembl:ENSMUST00000129173) Source type: large scale study Cross-references: | |||||||
rs3389132668 | 290 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.72) Somatic: No Accession: NC_000076.7:g.126844858C>G Codon: ACC/AGC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.126844858C>G Locations: - p.Thr290Ser (Ensembl:ENSMUST00000026500) - c.869C>G (Ensembl:ENSMUST00000026500) - p.Thr290Ser (Ensembl:ENSMUST00000129173) - c.869C>G (Ensembl:ENSMUST00000129173) Source type: large scale study Cross-references: | |||||||
rs3389071068 | 303 | V>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NC_000076.7:g.126844897T>G Codon: GTT/GGT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.126844897T>G Locations: - p.Val303Gly (Ensembl:ENSMUST00000026500) - c.908T>G (Ensembl:ENSMUST00000026500) - p.Val303Gly (Ensembl:ENSMUST00000129173) - c.908T>G (Ensembl:ENSMUST00000129173) Source type: large scale study Cross-references: | |||||||
rs3389132715 | 318 | M>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000076.7:g.126845610A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.126845610A>G Locations: - p.Met318Val (Ensembl:ENSMUST00000026500) - c.952A>G (Ensembl:ENSMUST00000026500) - p.Met318Val (Ensembl:ENSMUST00000129173) - c.952A>G (Ensembl:ENSMUST00000129173) Source type: large scale study Cross-references: | |||||||
rs3389107527 | 323 | S>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.56) Somatic: No Accession: NC_000076.7:g.126845626G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.126845626G>T Locations: - p.Ser323Ile (Ensembl:ENSMUST00000026500) - c.968G>T (Ensembl:ENSMUST00000026500) - p.Ser323Ile (Ensembl:ENSMUST00000129173) - c.968G>T (Ensembl:ENSMUST00000129173) Source type: large scale study Cross-references: | |||||||
rs3411385414 | 353 | T>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.64) Somatic: No Accession: NC_000076.7:g.126845716C>G Codon: ACG/AGG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.126845716C>G Locations: - p.Thr353Arg (Ensembl:ENSMUST00000026500) - c.1058C>G (Ensembl:ENSMUST00000026500) - p.Thr353Arg (Ensembl:ENSMUST00000129173) - c.1058C>G (Ensembl:ENSMUST00000129173) Source type: large scale study Cross-references: | |||||||
rs249816173 | 360 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.17) Somatic: No Accession: NC_000076.7:g.126845737G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.126845737G>A Locations: - p.Ser360Asn (Ensembl:ENSMUST00000026500) - c.1079G>A (Ensembl:ENSMUST00000026500) - p.Ser360Asn (Ensembl:ENSMUST00000129173) - c.1079G>A (Ensembl:ENSMUST00000129173) Source type: large scale study Cross-references: | |||||||
rs3389102097 | 363 | K>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.126845746A>T Codon: AAA/ATA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.126845746A>T Locations: - p.Lys363Ile (Ensembl:ENSMUST00000026500) - c.1088A>T (Ensembl:ENSMUST00000026500) - p.Lys363Ile (Ensembl:ENSMUST00000129173) - c.1088A>T (Ensembl:ENSMUST00000129173) Source type: large scale study Cross-references: | |||||||
rs3389123772 | 366 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000076.7:g.126845849A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.126845849A>G Locations: - p.Lys366Arg (Ensembl:ENSMUST00000026500) - c.1097A>G (Ensembl:ENSMUST00000026500) - p.Lys366Arg (Ensembl:ENSMUST00000129173) - c.1097A>G (Ensembl:ENSMUST00000129173) Source type: large scale study Cross-references: | |||||||
rs227350330 | 375 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000076.7:g.126845875T>A Codon: TCT/ACT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.126845875T>A Locations: - p.Ser375Thr (Ensembl:ENSMUST00000026500) - c.1123T>A (Ensembl:ENSMUST00000026500) - p.Ser375Thr (Ensembl:ENSMUST00000129173) - c.1123T>A (Ensembl:ENSMUST00000129173) Source type: large scale study Cross-references: | |||||||
rs3389140765 | 379 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000076.7:g.126845888C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.126845888C>T Locations: - p.Thr379Ile (Ensembl:ENSMUST00000026500) - c.1136C>T (Ensembl:ENSMUST00000026500) - p.Thr379Ile (Ensembl:ENSMUST00000129173) - c.1136C>T (Ensembl:ENSMUST00000129173) Source type: large scale study Cross-references: | |||||||
rs3389071020 | 393 | G>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.126845930G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.126845930G>A Locations: - p.Gly393Asp (Ensembl:ENSMUST00000026500) - c.1178G>A (Ensembl:ENSMUST00000026500) - p.Gly393Asp (Ensembl:ENSMUST00000129173) - c.1178G>A (Ensembl:ENSMUST00000129173) Source type: large scale study Cross-references: | |||||||
rs3389139947 | 394 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000076.7:g.126845934A>C Codon: AAA/AAC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.126845934A>C Locations: - p.Lys394Asn (Ensembl:ENSMUST00000026500) - c.1182A>C (Ensembl:ENSMUST00000026500) - p.Lys394Asn (Ensembl:ENSMUST00000129173) - c.1182A>C (Ensembl:ENSMUST00000129173) Source type: large scale study Cross-references: | |||||||
rs3389132728 | 399 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000076.7:g.126846391G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.126846391G>A Locations: - p.Val399Ile (Ensembl:ENSMUST00000026500) - c.1195G>A (Ensembl:ENSMUST00000026500) - p.Val399Ile (Ensembl:ENSMUST00000129173) - c.1195G>A (Ensembl:ENSMUST00000129173) Source type: large scale study Cross-references: | |||||||
rs3389127996 | 401 | R>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.126846399A>T Codon: AGA/AGT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.126846399A>T Locations: - p.Arg401Ser (Ensembl:ENSMUST00000026500) - c.1203A>T (Ensembl:ENSMUST00000026500) - p.Arg401Ser (Ensembl:ENSMUST00000129173) - c.1203A>T (Ensembl:ENSMUST00000129173) Source type: large scale study Cross-references: | |||||||
rs3389096695 | 418 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.126846450C>A Codon: TTC/TTA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.126846450C>A Locations: - p.Phe418Leu (Ensembl:ENSMUST00000026500) - c.1254C>A (Ensembl:ENSMUST00000026500) - p.Phe418Leu (Ensembl:ENSMUST00000129173) - c.1254C>A (Ensembl:ENSMUST00000129173) Source type: large scale study Cross-references: | |||||||
rs3389127986 | 443 | W>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.126846523T>A Codon: TGG/AGG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.126846523T>A Locations: - p.Trp443Arg (Ensembl:ENSMUST00000026500) - c.1327T>A (Ensembl:ENSMUST00000026500) - p.Trp443Arg (Ensembl:ENSMUST00000129173) - c.1327T>A (Ensembl:ENSMUST00000129173) Source type: large scale study Cross-references: | |||||||
rs3401746287 | 452 | E>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.126846792A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.126846792A>C Locations: - p.Glu452Ala (Ensembl:ENSMUST00000026500) - c.1355A>C (Ensembl:ENSMUST00000026500) - p.Glu452Ala (Ensembl:ENSMUST00000129173) - c.1355A>C (Ensembl:ENSMUST00000129173) Source type: large scale study Cross-references: | |||||||
rs3389123787 | 455 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.126846800G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.126846800G>A Locations: - p.Ala455Thr (Ensembl:ENSMUST00000026500) - c.1363G>A (Ensembl:ENSMUST00000026500) - p.Ala455Thr (Ensembl:ENSMUST00000129173) - c.1363G>A (Ensembl:ENSMUST00000129173) Source type: large scale study Cross-references: | |||||||
rs226451868 | 459 | R>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000076.7:g.126846813G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.126846813G>A Locations: - p.Arg459Gln (Ensembl:ENSMUST00000026500) - c.1376G>A (Ensembl:ENSMUST00000026500) - p.Arg459Gln (Ensembl:ENSMUST00000129173) - c.1376G>A (Ensembl:ENSMUST00000129173) Source type: large scale study Cross-references: | |||||||
rs220977051 | 463 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000076.7:g.126846824G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.126846824G>A Locations: - p.Val463Met (Ensembl:ENSMUST00000026500) - c.1387G>A (Ensembl:ENSMUST00000026500) - p.Val463Met (Ensembl:ENSMUST00000129173) - c.1387G>A (Ensembl:ENSMUST00000129173) Source type: large scale study Cross-references: | |||||||
rs3389139913 | 477 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000076.7:g.126846867G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.126846867G>A Locations: - p.Ser477Asn (Ensembl:ENSMUST00000026500) - c.1430G>A (Ensembl:ENSMUST00000026500) - p.Ser477Asn (Ensembl:ENSMUST00000129173) - c.1430G>A (Ensembl:ENSMUST00000129173) Source type: large scale study Cross-references: | |||||||
rs3389132661 | 481 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.126846878G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.126846878G>A Locations: - p.Glu481Lys (Ensembl:ENSMUST00000026500) - c.1441G>A (Ensembl:ENSMUST00000026500) - p.Glu481Lys (Ensembl:ENSMUST00000129173) - c.1441G>A (Ensembl:ENSMUST00000129173) Source type: large scale study Cross-references: | |||||||
rs3389129639 | 484 | H>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.126846888A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.126846888A>G Locations: - p.His484Arg (Ensembl:ENSMUST00000026500) - c.1451A>G (Ensembl:ENSMUST00000026500) - p.His484Arg (Ensembl:ENSMUST00000129173) - c.1451A>G (Ensembl:ENSMUST00000129173) Source type: large scale study Cross-references: | |||||||
rs3401849388 | 485 | F>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.126846890T>A Codon: TTC/ATC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.126846890T>A Locations: - p.Phe485Ile (Ensembl:ENSMUST00000026500) - c.1453T>A (Ensembl:ENSMUST00000026500) - p.Phe485Ile (Ensembl:ENSMUST00000129173) - c.1453T>A (Ensembl:ENSMUST00000129173) Source type: large scale study Cross-references: | |||||||
rs3389128302 | 486 | M>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.126846893A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.126846893A>G Locations: - p.Met486Val (Ensembl:ENSMUST00000026500) - c.1456A>G (Ensembl:ENSMUST00000026500) - p.Met486Val (Ensembl:ENSMUST00000129173) - c.1456A>G (Ensembl:ENSMUST00000129173) Source type: large scale study Cross-references: | |||||||
rs3401123627 | 488 | I>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.126846900T>G Codon: ATC/AGC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.126846900T>G Locations: - p.Ile488Ser (Ensembl:ENSMUST00000026500) - c.1463T>G (Ensembl:ENSMUST00000026500) - p.Ile488Ser (Ensembl:ENSMUST00000129173) - c.1463T>G (Ensembl:ENSMUST00000129173) Source type: large scale study Cross-references: | |||||||
rs3389127871 | 497 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000076.7:g.126846928G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.126846928G>C Locations: - p.Glu497Asp (Ensembl:ENSMUST00000026500) - c.1491G>C (Ensembl:ENSMUST00000026500) - p.Glu497Asp (Ensembl:ENSMUST00000129173) - c.1491G>C (Ensembl:ENSMUST00000129173) Source type: large scale study Cross-references: | |||||||
rs3389131973 | 500 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000076.7:g.126847574A>T Codon: ACT/TCT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.126847574A>T Locations: - p.Thr500Ser (Ensembl:ENSMUST00000026500) - c.1498A>T (Ensembl:ENSMUST00000026500) - p.Thr500Ser (Ensembl:ENSMUST00000129173) - c.1498A>T (Ensembl:ENSMUST00000129173) Source type: large scale study Cross-references: | |||||||
rs3548288877 | 504 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000076.7:g.126847586G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.126847586G>A Locations: - p.Gly504Arg (Ensembl:ENSMUST00000026500) - c.1510G>A (Ensembl:ENSMUST00000026500) - p.Gly504Arg (Ensembl:ENSMUST00000129173) - c.1510G>A (Ensembl:ENSMUST00000129173) Source type: large scale study Cross-references: | |||||||
rs3389129995 | 512 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.45) Somatic: No Accession: NC_000076.7:g.126847610G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.126847610G>A Locations: - p.Val512Ile (Ensembl:ENSMUST00000026500) - c.1534G>A (Ensembl:ENSMUST00000026500) - p.Val512Ile (Ensembl:ENSMUST00000129173) - c.1534G>A (Ensembl:ENSMUST00000129173) Source type: large scale study Cross-references: | |||||||
rs3401912569 | 530 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000076.7:g.126847664G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.126847664G>A Locations: - p.Val530Ile (Ensembl:ENSMUST00000026500) - c.1588G>A (Ensembl:ENSMUST00000026500) - p.Val530Ile (Ensembl:ENSMUST00000129173) - c.1588G>A (Ensembl:ENSMUST00000129173) Source type: large scale study Cross-references: | |||||||
rs3389104320 | 551 | H>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000076.7:g.126847729C>G Codon: CAC/CAG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.126847729C>G Locations: - p.His551Gln (Ensembl:ENSMUST00000026500) - c.1653C>G (Ensembl:ENSMUST00000026500) - p.His551Gln (Ensembl:ENSMUST00000129173) - c.1653C>G (Ensembl:ENSMUST00000129173) Source type: large scale study Cross-references: | |||||||
rs3389128303 | 609 | Q>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.126849976A>T Codon: CAA/CTA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.126849976A>T Locations: - p.Gln609Leu (Ensembl:ENSMUST00000026500) - c.1826A>T (Ensembl:ENSMUST00000026500) - p.Gln609Leu (Ensembl:ENSMUST00000129173) - c.1826A>T (Ensembl:ENSMUST00000129173) Source type: large scale study Cross-references: | |||||||
rs3389128284 | 639 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.126850065G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.126850065G>A Locations: - p.Glu639Lys (Ensembl:ENSMUST00000026500) - c.1915G>A (Ensembl:ENSMUST00000026500) - p.Glu639Lys (Ensembl:ENSMUST00000129173) - c.1915G>A (Ensembl:ENSMUST00000129173) Source type: large scale study Cross-references: | |||||||
rs3389135445 | 648 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.126850092C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.126850092C>T Locations: - p.Leu648Phe (Ensembl:ENSMUST00000026500) - c.1942C>T (Ensembl:ENSMUST00000026500) - p.Leu648Phe (Ensembl:ENSMUST00000129173) - c.1942C>T (Ensembl:ENSMUST00000129173) Source type: large scale study Cross-references: | |||||||
rs3413090585 | 675 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000076.7:g.126852239G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.126852239G>A Locations: - p.Ala675Thr (Ensembl:ENSMUST00000026500) - c.2023G>A (Ensembl:ENSMUST00000026500) - p.Ala675Thr (Ensembl:ENSMUST00000129173) - c.2023G>A (Ensembl:ENSMUST00000129173) Source type: large scale study Cross-references: | |||||||
rs3389129613 | 769 | N>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000076.7:g.126854340A>T Codon: AAC/ATC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.126854340A>T Locations: - p.Asn769Ile (Ensembl:ENSMUST00000026500) - c.2306A>T (Ensembl:ENSMUST00000026500) - p.Asn769Ile (Ensembl:ENSMUST00000129173) - c.2306A>T (Ensembl:ENSMUST00000129173) Source type: large scale study Cross-references: | |||||||
rs3389128041 | 772 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.126854348C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.126854348C>A Locations: - p.Leu772Met (Ensembl:ENSMUST00000026500) - c.2314C>A (Ensembl:ENSMUST00000026500) - p.Leu772Met (Ensembl:ENSMUST00000129173) - c.2314C>A (Ensembl:ENSMUST00000129173) Source type: large scale study Cross-references: | |||||||
rs3389127997 | 776 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000076.7:g.126854360G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.126854360G>C Locations: - p.Val776Leu (Ensembl:ENSMUST00000026500) - c.2326G>C (Ensembl:ENSMUST00000026500) - p.Val776Leu (Ensembl:ENSMUST00000129173) - c.2326G>C (Ensembl:ENSMUST00000129173) Source type: large scale study Cross-references: | |||||||
rs258646306 | 784 | Y>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.55) Somatic: No Accession: NC_000076.7:g.126856322T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.126856322T>C Locations: - p.Tyr784His (Ensembl:ENSMUST00000026500) - c.2350T>C (Ensembl:ENSMUST00000026500) - p.Tyr784His (Ensembl:ENSMUST00000129173) - c.2350T>C (Ensembl:ENSMUST00000129173) Source type: large scale study Cross-references: |