A0A087WRB8 · A0A087WRB8_MOUSE
- ProteinDystonin
- GeneDst
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids1471 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score2/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3388462931 | 27 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.34045349A>T Codon: AAA/AAT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34045349A>T Locations: - p.Lys27Asn (Ensembl:ENSMUST00000187486) - c.81A>T (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs3388462077 | 53 | I>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.34045426T>A Codon: ATT/AAT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34045426T>A Locations: - p.Ile53Asn (Ensembl:ENSMUST00000187486) - c.158T>A (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs3388461091 | 78 | K>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.34125344A>T Codon: AAG/ATG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34125344A>T Locations: - p.Lys78Met (Ensembl:ENSMUST00000187486) - c.233A>T (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs3388460928 | 78 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.34125345G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34125345G>T Locations: - p.Lys78Asn (Ensembl:ENSMUST00000187486) - c.234G>T (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs3388462185 | 105 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.34153053G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34153053G>A Locations: - p.Asp105Asn (Ensembl:ENSMUST00000187486) - c.313G>A (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs3388462942 | 106 | G>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.34153057G>T Codon: GGG/GTG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34153057G>T Locations: - p.Gly106Val (Ensembl:ENSMUST00000187486) - c.317G>T (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs3388461259 | 204 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000067.7:g.34174247C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34174247C>T Locations: - p.Ala204Val (Ensembl:ENSMUST00000187486) - c.611C>T (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs3388462078 | 211 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000067.7:g.34174267G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34174267G>A Locations: - p.Val211Met (Ensembl:ENSMUST00000187486) - c.631G>A (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs1135303069 | 212 | R>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000067.7:g.34174271G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34174271G>A Locations: - p.Arg212Gln (Ensembl:ENSMUST00000187486) - c.635G>A (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs3388463193 | 220 | W>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.34174296G>T Codon: TGG/TGT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34174296G>T Locations: - p.Trp220Cys (Ensembl:ENSMUST00000187486) - c.660G>T (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs3388461951 | 244 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.34191312C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34191312C>T Locations: - p.Ala244Val (Ensembl:ENSMUST00000187486) - c.731C>T (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs3389840721 | 249 | L>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.34191327T>A Codon: CTT/CAT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34191327T>A Locations: - p.Leu249His (Ensembl:ENSMUST00000187486) - c.746T>A (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs3388461100 | 276 | S>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.34191506C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34191506C>T Locations: - p.Ser276Phe (Ensembl:ENSMUST00000187486) - c.827C>T (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs3388462613 | 280 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.34191519G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34191519G>T Locations: - p.Glu280Asp (Ensembl:ENSMUST00000187486) - c.840G>T (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs3388462012 | 296 | K>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.34191565A>C Codon: AAA/CAA Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34191565A>C Locations: - p.Lys296Gln (Ensembl:ENSMUST00000187486) - c.886A>C (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs3388462569 | 307 | N>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.34191600C>A Codon: AAC/AAA Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34191600C>A Locations: - p.Asn307Lys (Ensembl:ENSMUST00000187486) - c.921C>A (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs263442616 | 342 | N>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000067.7:g.34193697A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34193697A>G Locations: - p.Asn342Ser (Ensembl:ENSMUST00000187486) - c.1025A>G (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs3388462136 | 365 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.34195733G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34195733G>T Locations: - p.Glu365Asp (Ensembl:ENSMUST00000187486) - c.1095G>T (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs3388461980 | 395 | P>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.34195908C>A Codon: CCG/CAG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34195908C>A Locations: - p.Pro395Gln (Ensembl:ENSMUST00000187486) - c.1184C>A (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs3388463067 | 411 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.34195955G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34195955G>A Locations: - p.Glu411Lys (Ensembl:ENSMUST00000187486) - c.1231G>A (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs3388462006 | 412 | R>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.34195958C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34195958C>T Locations: - p.Arg412Trp (Ensembl:ENSMUST00000187486) - c.1234C>T (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs3388461831 | 474 | I>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.34200146T>C Codon: ATA/ACA Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34200146T>C Locations: - p.Ile474Thr (Ensembl:ENSMUST00000187486) - c.1421T>C (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs3388461461 | 476 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.34200153A>C Codon: GAA/GAC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34200153A>C Locations: - p.Glu476Asp (Ensembl:ENSMUST00000187486) - c.1428A>C (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs3388462095 | 487 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000067.7:g.34200184G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34200184G>A Locations: - p.Asp487Asn (Ensembl:ENSMUST00000187486) - c.1459G>A (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs3388462694 | 525 | S>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.34202149G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34202149G>T Locations: - p.Ser525Ile (Ensembl:ENSMUST00000187486) - c.1574G>T (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs3388462966 | 530 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.34202164T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34202164T>C Locations: - p.Leu530Pro (Ensembl:ENSMUST00000187486) - c.1589T>C (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs3388461190 | 551 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.24) Somatic: No Accession: NC_000067.7:g.34202226G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34202226G>A Locations: - p.Ala551Thr (Ensembl:ENSMUST00000187486) - c.1651G>A (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs3388461888 | 553 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.34202233C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34202233C>T Locations: - p.Thr553Ile (Ensembl:ENSMUST00000187486) - c.1658C>T (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs3388462521 | 579 | L>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.34202310T>G Codon: TTG/GTG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34202310T>G Locations: - p.Leu579Val (Ensembl:ENSMUST00000187486) - c.1735T>G (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs3539092306 | 600 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000067.7:g.34202373C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34202373C>T Locations: - p.Pro600Ser (Ensembl:ENSMUST00000187486) - c.1798C>T (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs3388462434 | 674 | V>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.34202750T>A Codon: GTT/GAT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34202750T>A Locations: - p.Val674Asp (Ensembl:ENSMUST00000187486) - c.2021T>A (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs3388462298 | 680 | N>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.34202768A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34202768A>G Locations: - p.Asn680Ser (Ensembl:ENSMUST00000187486) - c.2039A>G (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs3388462157 | 682 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.34202775A>C Codon: AAA/AAC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34202775A>C Locations: - p.Lys682Asn (Ensembl:ENSMUST00000187486) - c.2046A>C (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs3389784853 | 768 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.34203276T>A Codon: AGT/AGA Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34203276T>A Locations: - p.Ser768Arg (Ensembl:ENSMUST00000187486) - c.2304T>A (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs3388462981 | 826 | Q>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000067.7:g.34204163C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 1q Genomic location: NC_000067.7:g.34204163C>T Locations: - p.Gln826Ter (Ensembl:ENSMUST00000187486) - c.2476C>T (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs3389839204 | 827 | W>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000067.7:g.34204168G>A Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 1q Genomic location: NC_000067.7:g.34204168G>A Locations: - p.Trp827Ter (Ensembl:ENSMUST00000187486) - c.2481G>A (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs3388462323 | 977 | C>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.34206463G>C Codon: TGC/TCC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34206463G>C Locations: - p.Cys977Ser (Ensembl:ENSMUST00000187486) - c.2930G>C (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs3389845430 | 1061 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.34206981T>A Codon: GAT/GAA Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34206981T>A Locations: - p.Asp1061Glu (Ensembl:ENSMUST00000187486) - c.3183T>A (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs3389832469 | 1062 | S>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.34206983G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34206983G>T Locations: - p.Ser1062Ile (Ensembl:ENSMUST00000187486) - c.3185G>T (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs37420877 | 1074 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000067.7:g.34207019G>C Codon: AGT/ACT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34207019G>C Locations: - p.Ser1074Thr (Ensembl:ENSMUST00000187486) - c.3221G>C (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs242860549 | 1081 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000067.7:g.34207040G>C Codon: AGT/ACT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34207040G>C Locations: - p.Ser1081Thr (Ensembl:ENSMUST00000187486) - c.3242G>C (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs3389781315 | 1112 | R>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000067.7:g.34208289C>T Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 1q Genomic location: NC_000067.7:g.34208289C>T Locations: - p.Arg1112Ter (Ensembl:ENSMUST00000187486) - c.3334C>T (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs3388462200 | 1114 | I>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.34208295A>T Codon: ATT/TTT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34208295A>T Locations: - p.Ile1114Phe (Ensembl:ENSMUST00000187486) - c.3340A>T (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs3388462631 | 1118 | L>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.34208307C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34208307C>G Locations: - p.Leu1118Val (Ensembl:ENSMUST00000187486) - c.3352C>G (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs39216094 | 1127 | R>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000067.7:g.34208335G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34208335G>A Locations: - p.Arg1127Gln (Ensembl:ENSMUST00000187486) - c.3380G>A (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs3388461869 | 1139 | H>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000067.7:g.34208371A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34208371A>G Locations: - p.His1139Arg (Ensembl:ENSMUST00000187486) - c.3416A>G (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs3388461990 | 1184 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000067.7:g.34208933G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34208933G>A Locations: - p.Ala1184Thr (Ensembl:ENSMUST00000187486) - c.3550G>A (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs3388462855 | 1186 | R>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000067.7:g.34208940G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34208940G>A Locations: - p.Arg1186Gln (Ensembl:ENSMUST00000187486) - c.3557G>A (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs228114382 | 1193 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.39) Somatic: No Accession: NC_000067.7:g.34208960A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34208960A>G Locations: - p.Ile1193Val (Ensembl:ENSMUST00000187486) - c.3577A>G (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs244645024 | 1195 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000067.7:g.34208967G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34208967G>A Locations: - p.Ser1195Asn (Ensembl:ENSMUST00000187486) - c.3584G>A (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs3684859 | 1196 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000067.7:g.34208969T>A Codon: TTG/ATG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34208969T>A Locations: - p.Leu1196Met (Ensembl:ENSMUST00000187486) - c.3586T>A (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs3388462628 | 1215 | L>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.34209458T>C Codon: TTG/TCG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34209458T>C Locations: - p.Leu1215Ser (Ensembl:ENSMUST00000187486) - c.3644T>C (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs262306891 | 1225 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000067.7:g.34209487G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34209487G>A Locations: - p.Ala1225Thr (Ensembl:ENSMUST00000187486) - c.3673G>A (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs3388462052 | 1242 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.34209539C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34209539C>T Locations: - p.Ala1242Val (Ensembl:ENSMUST00000187486) - c.3725C>T (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs3388462241 | 1302 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.34210337G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34210337G>T Locations: - p.Lys1302Asn (Ensembl:ENSMUST00000187486) - c.3906G>T (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs3388462071 | 1304 | D>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.34210341G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34210341G>T Locations: - p.Asp1304Tyr (Ensembl:ENSMUST00000187486) - c.3910G>T (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs3389825292 | 1337 | S>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000067.7:g.34211313_34211314insAAATAAAT Codon: -/TAAATAAA Consequence type: stop gained Cytogenetic band: 1q Genomic location: NC_000067.7:g.34211313_34211314insAAATAAAT Locations: - p.Ser1337Ter (Ensembl:ENSMUST00000187486) - c.4009_4010insAAATAAAT (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs253470276 | 1350 | T>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000067.7:g.34211353C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34211353C>T Locations: - p.Thr1350Met (Ensembl:ENSMUST00000187486) - c.4049C>T (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs3388462211 | 1376 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.34212086C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34212086C>A Locations: - p.Leu1376Met (Ensembl:ENSMUST00000187486) - c.4126C>A (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs3539091407 | 1389 | E>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.34212125G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34212125G>C Locations: - p.Glu1389Gln (Ensembl:ENSMUST00000187486) - c.4165G>C (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs3388462189 | 1408 | T>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000067.7:g.34213212C>A Codon: ACA/AAA Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34213212C>A Locations: - p.Thr1408Lys (Ensembl:ENSMUST00000187486) - c.4223C>A (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs243320189 | 1416 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000067.7:g.34213237G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34213237G>T Locations: - p.Glu1416Asp (Ensembl:ENSMUST00000187486) - c.4248G>T (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: | |||||||
rs3412897279 | 1438 | E>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.34213302A>T Codon: GAG/GTG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.34213302A>T Locations: - p.Glu1438Val (Ensembl:ENSMUST00000187486) - c.4313A>T (Ensembl:ENSMUST00000187486) Source type: large scale study Cross-references: |