Q5SQX6 · CYFP2_MOUSE
- ProteinCytoplasmic FMR1-interacting protein 2
- GeneCyfip2
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids1253 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3389154829 | 9 | D>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.46182432C>G Codon: GAT/CAT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.46182432C>G Locations: - p.Asp9His (Ensembl:ENSMUST00000093166) - c.25G>C (Ensembl:ENSMUST00000093166) - p.Asp9His (Ensembl:ENSMUST00000165599) - c.25G>C (Ensembl:ENSMUST00000165599) - p.Asp9His (Ensembl:ENSMUST00000093165) - c.25G>C (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3389147122 | 13 | N>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.46182419T>A Codon: AAC/ATC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.46182419T>A Locations: - p.Asn13Ile (Ensembl:ENSMUST00000093166) - c.38A>T (Ensembl:ENSMUST00000093166) - p.Asn13Ile (Ensembl:ENSMUST00000165599) - c.38A>T (Ensembl:ENSMUST00000165599) - p.Asn13Ile (Ensembl:ENSMUST00000093165) - c.38A>T (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3389115356 | 24 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.46182385G>T Codon: GAC/GAA Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.46182385G>T Locations: - p.Asp24Glu (Ensembl:ENSMUST00000093166) - c.72C>A (Ensembl:ENSMUST00000093166) - p.Asp24Glu (Ensembl:ENSMUST00000165599) - c.72C>A (Ensembl:ENSMUST00000165599) - p.Asp24Glu (Ensembl:ENSMUST00000093165) - c.72C>A (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3400948454 | 46 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000077.7:g.46180528G>T Codon: TTC/TTA Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.46180528G>T Locations: - p.Phe46Leu (Ensembl:ENSMUST00000093166) - c.138C>A (Ensembl:ENSMUST00000093166) - p.Phe46Leu (Ensembl:ENSMUST00000165599) - c.138C>A (Ensembl:ENSMUST00000165599) - p.Phe46Leu (Ensembl:ENSMUST00000093165) - c.138C>A (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3400948406 | 70 | N>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.46176971T>G Codon: AAT/CAT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.46176971T>G Locations: - p.Asn70His (Ensembl:ENSMUST00000093166) - c.208A>C (Ensembl:ENSMUST00000093166) - p.Asn70His (Ensembl:ENSMUST00000165599) - c.208A>C (Ensembl:ENSMUST00000165599) - p.Asn70His (Ensembl:ENSMUST00000093165) - c.208A>C (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3389163322 | 111 | T>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.46175039G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.46175039G>A Locations: - p.Thr111Met (Ensembl:ENSMUST00000093166) - c.332C>T (Ensembl:ENSMUST00000093166) - p.Thr111Met (Ensembl:ENSMUST00000165599) - c.332C>T (Ensembl:ENSMUST00000165599) - p.Thr111Met (Ensembl:ENSMUST00000093165) - c.332C>T (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3389154811 | 139 | E>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.46170932T>A Codon: GAG/GTG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.46170932T>A Locations: - p.Glu139Val (Ensembl:ENSMUST00000093166) - c.416A>T (Ensembl:ENSMUST00000093166) - p.Glu139Val (Ensembl:ENSMUST00000165599) - c.416A>T (Ensembl:ENSMUST00000165599) - p.Glu139Val (Ensembl:ENSMUST00000093165) - c.416A>T (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3389126958 | 140 | V>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.46170929A>T Codon: GTG/GAG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.46170929A>T Locations: - p.Val140Glu (Ensembl:ENSMUST00000093166) - c.419T>A (Ensembl:ENSMUST00000093166) - p.Val140Glu (Ensembl:ENSMUST00000165599) - c.419T>A (Ensembl:ENSMUST00000165599) - p.Val140Glu (Ensembl:ENSMUST00000093165) - c.419T>A (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3389147120 | 181 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000077.7:g.46170807C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.46170807C>T Locations: - p.Val181Ile (Ensembl:ENSMUST00000093166) - c.541G>A (Ensembl:ENSMUST00000093166) - p.Val181Ile (Ensembl:ENSMUST00000165599) - c.541G>A (Ensembl:ENSMUST00000165599) - p.Val181Ile (Ensembl:ENSMUST00000093165) - c.541G>A (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3389147060 | 185 | H>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000077.7:g.46170794T>A Codon: CAC/CTC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.46170794T>A Locations: - p.His185Leu (Ensembl:ENSMUST00000093166) - c.554A>T (Ensembl:ENSMUST00000093166) - p.His185Leu (Ensembl:ENSMUST00000165599) - c.554A>T (Ensembl:ENSMUST00000165599) - p.His185Leu (Ensembl:ENSMUST00000093165) - c.554A>T (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3412942587 | 194 | F>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.46168971A>T Codon: TTC/TAC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.46168971A>T Locations: - p.Phe194Tyr (Ensembl:ENSMUST00000093166) - c.581T>A (Ensembl:ENSMUST00000093166) - p.Phe194Tyr (Ensembl:ENSMUST00000165599) - c.581T>A (Ensembl:ENSMUST00000165599) - p.Phe194Tyr (Ensembl:ENSMUST00000093165) - c.581T>A (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3389152365 | 199 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.46168957C>T Codon: GCG/ACG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.46168957C>T Locations: - p.Ala199Thr (Ensembl:ENSMUST00000093166) - c.595G>A (Ensembl:ENSMUST00000093166) - p.Ala199Thr (Ensembl:ENSMUST00000165599) - c.595G>A (Ensembl:ENSMUST00000165599) - p.Ala199Thr (Ensembl:ENSMUST00000093165) - c.595G>A (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3389161850 | 214 | L>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.46168911A>C Codon: CTG/CGG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.46168911A>C Locations: - p.Leu214Arg (Ensembl:ENSMUST00000093166) - c.641T>G (Ensembl:ENSMUST00000093166) - p.Leu214Arg (Ensembl:ENSMUST00000165599) - c.641T>G (Ensembl:ENSMUST00000165599) - p.Leu214Arg (Ensembl:ENSMUST00000093165) - c.641T>G (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3389152189 | 229 | E>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000077.7:g.46167716C>A Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 11q Genomic location: NC_000077.7:g.46167716C>A Locations: - p.Glu229Ter (Ensembl:ENSMUST00000093166) - c.685G>T (Ensembl:ENSMUST00000093166) - p.Glu229Ter (Ensembl:ENSMUST00000165599) - c.685G>T (Ensembl:ENSMUST00000165599) - p.Glu229Ter (Ensembl:ENSMUST00000093165) - c.685G>T (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3389157055 | 308 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.46163504G>T Codon: TTC/TTA Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.46163504G>T Locations: - p.Phe308Leu (Ensembl:ENSMUST00000093166) - c.924C>A (Ensembl:ENSMUST00000093166) - p.Phe308Leu (Ensembl:ENSMUST00000165599) - c.924C>A (Ensembl:ENSMUST00000165599) - p.Phe308Leu (Ensembl:ENSMUST00000093165) - c.924C>A (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
320 | K>E | RNA edited version (UniProt) | UniProt | ||||
Consequence: missense Somatic: No Accession: Consequence type: missense Cytogenetic band: 11q Genomic location: Locations: - p.Lys320Glu (UniProt:Q5SQX6) Source type: uniprot | |||||||
rs3389089973 | 384 | E>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000077.7:g.46157617C>A Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 11q Genomic location: NC_000077.7:g.46157617C>A Locations: - p.Glu384Ter (Ensembl:ENSMUST00000093166) - c.1150G>T (Ensembl:ENSMUST00000093166) - p.Glu384Ter (Ensembl:ENSMUST00000165599) - c.1150G>T (Ensembl:ENSMUST00000165599) - p.Glu384Ter (Ensembl:ENSMUST00000093165) - c.1150G>T (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3389150597 | 402 | K>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.46157563T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.46157563T>C Locations: - p.Lys402Glu (Ensembl:ENSMUST00000093166) - c.1204A>G (Ensembl:ENSMUST00000093166) - p.Lys402Glu (Ensembl:ENSMUST00000165599) - c.1204A>G (Ensembl:ENSMUST00000165599) - p.Lys402Glu (Ensembl:ENSMUST00000093165) - c.1204A>G (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3389163312 | 406 | H>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000077.7:g.46157549A>T Codon: CAT/CAA Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.46157549A>T Locations: - p.His406Gln (Ensembl:ENSMUST00000093166) - c.1218T>A (Ensembl:ENSMUST00000093166) - p.His406Gln (Ensembl:ENSMUST00000165599) - c.1218T>A (Ensembl:ENSMUST00000165599) - p.His406Gln (Ensembl:ENSMUST00000093165) - c.1218T>A (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3413007375 | 417 | H>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.46156838G>C Codon: CAC/GAC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.46156838G>C Locations: - p.His417Asp (Ensembl:ENSMUST00000093166) - c.1249C>G (Ensembl:ENSMUST00000093166) - p.His417Asp (Ensembl:ENSMUST00000165599) - c.1249C>G (Ensembl:ENSMUST00000165599) - p.His417Asp (Ensembl:ENSMUST00000093165) - c.1249C>G (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3402230359 | 421 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.46156824C>G Codon: AAG/AAC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.46156824C>G Locations: - p.Lys421Asn (Ensembl:ENSMUST00000093166) - c.1263G>C (Ensembl:ENSMUST00000093166) - p.Lys421Asn (Ensembl:ENSMUST00000165599) - c.1263G>C (Ensembl:ENSMUST00000165599) - p.Lys421Asn (Ensembl:ENSMUST00000093165) - c.1263G>C (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3402169394 | 427 | C>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.46156807C>A Codon: TGC/TTC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.46156807C>A Locations: - p.Cys427Phe (Ensembl:ENSMUST00000093166) - c.1280G>T (Ensembl:ENSMUST00000093166) - p.Cys427Phe (Ensembl:ENSMUST00000165599) - c.1280G>T (Ensembl:ENSMUST00000165599) - p.Cys427Phe (Ensembl:ENSMUST00000093165) - c.1280G>T (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3402147862 | 460 | L>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000077.7:g.46152408A>T Codon: TTG/TAG Consequence type: stop gained Cytogenetic band: 11q Genomic location: NC_000077.7:g.46152408A>T Locations: - p.Leu460Ter (Ensembl:ENSMUST00000093166) - c.1379T>A (Ensembl:ENSMUST00000093166) - p.Leu460Ter (Ensembl:ENSMUST00000165599) - c.1379T>A (Ensembl:ENSMUST00000165599) - p.Leu460Ter (Ensembl:ENSMUST00000093165) - c.1379T>A (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3389145053 | 462 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.46152403C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.46152403C>T Locations: - p.Val462Met (Ensembl:ENSMUST00000093166) - c.1384G>A (Ensembl:ENSMUST00000093166) - p.Val462Met (Ensembl:ENSMUST00000165599) - c.1384G>A (Ensembl:ENSMUST00000165599) - p.Val462Met (Ensembl:ENSMUST00000093165) - c.1384G>A (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3389150356 | 467 | M>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.46152386C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.46152386C>T Locations: - p.Met467Ile (Ensembl:ENSMUST00000093166) - c.1401G>A (Ensembl:ENSMUST00000093166) - p.Met467Ile (Ensembl:ENSMUST00000165599) - c.1401G>A (Ensembl:ENSMUST00000165599) - p.Met467Ile (Ensembl:ENSMUST00000093165) - c.1401G>A (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3389138877 | 480 | Y>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000077.7:g.46152347G>C Codon: TAC/TAG Consequence type: stop gained Cytogenetic band: 11q Genomic location: NC_000077.7:g.46152347G>C Locations: - p.Tyr480Ter (Ensembl:ENSMUST00000093166) - c.1440C>G (Ensembl:ENSMUST00000093166) - p.Tyr480Ter (Ensembl:ENSMUST00000165599) - c.1440C>G (Ensembl:ENSMUST00000165599) - p.Tyr480Ter (Ensembl:ENSMUST00000093165) - c.1440C>G (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3389147135 | 488 | Q>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000077.7:g.46152325G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 11q Genomic location: NC_000077.7:g.46152325G>A Locations: - p.Gln488Ter (Ensembl:ENSMUST00000093166) - c.1462C>T (Ensembl:ENSMUST00000093166) - p.Gln488Ter (Ensembl:ENSMUST00000165599) - c.1462C>T (Ensembl:ENSMUST00000165599) - p.Gln488Ter (Ensembl:ENSMUST00000093165) - c.1462C>T (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3389152196 | 523 | G>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.46151731C>A Codon: GGC/TGC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.46151731C>A Locations: - p.Gly523Cys (Ensembl:ENSMUST00000093166) - c.1567G>T (Ensembl:ENSMUST00000093166) - p.Gly523Cys (Ensembl:ENSMUST00000165599) - c.1567G>T (Ensembl:ENSMUST00000165599) - p.Gly523Cys (Ensembl:ENSMUST00000093165) - c.1567G>T (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3389150603 | 527 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.39) Somatic: No Accession: NC_000077.7:g.46151718G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.46151718G>A Locations: - p.Pro527Leu (Ensembl:ENSMUST00000093166) - c.1580C>T (Ensembl:ENSMUST00000093166) - p.Pro527Leu (Ensembl:ENSMUST00000165599) - c.1580C>T (Ensembl:ENSMUST00000165599) - p.Pro527Leu (Ensembl:ENSMUST00000093165) - c.1580C>T (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3389147063 | 550 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000077.7:g.46151650C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.46151650C>T Locations: - p.Ala550Thr (Ensembl:ENSMUST00000093166) - c.1648G>A (Ensembl:ENSMUST00000093166) - p.Ala550Thr (Ensembl:ENSMUST00000165599) - c.1648G>A (Ensembl:ENSMUST00000165599) - p.Ala550Thr (Ensembl:ENSMUST00000093165) - c.1648G>A (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3389157137 | 562 | R>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.46148516C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.46148516C>T Locations: - p.Arg562His (Ensembl:ENSMUST00000093166) - c.1685G>A (Ensembl:ENSMUST00000093166) - p.Arg562His (Ensembl:ENSMUST00000165599) - c.1685G>A (Ensembl:ENSMUST00000165599) - p.Arg562His (Ensembl:ENSMUST00000093165) - c.1685G>A (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3389115347 | 600 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000077.7:g.46148403A>G Codon: TTT/CTT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.46148403A>G Locations: - p.Phe600Leu (Ensembl:ENSMUST00000093166) - c.1798T>C (Ensembl:ENSMUST00000093166) - p.Phe600Leu (Ensembl:ENSMUST00000165599) - c.1798T>C (Ensembl:ENSMUST00000165599) - p.Phe600Leu (Ensembl:ENSMUST00000093165) - c.1798T>C (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3402147891 | 633-634 | RR>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000077.7:g.46145420_46145421insTAA Codon: CGG/CGTTAG Consequence type: stop gained Cytogenetic band: 11q Genomic location: NC_000077.7:g.46145420_46145421insTAA Locations: - p.Arg633_Arg634insTer (Ensembl:ENSMUST00000093166) - c.1898_1899insTTA (Ensembl:ENSMUST00000093166) - p.Arg633_Arg634insTer (Ensembl:ENSMUST00000165599) - c.1898_1899insTTA (Ensembl:ENSMUST00000165599) - p.Arg633_Arg634insTer (Ensembl:ENSMUST00000093165) - c.1898_1899insTTA (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3402165759 | 639 | I>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.46145402A>C Codon: ATT/ATG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.46145402A>C Locations: - p.Ile639Met (Ensembl:ENSMUST00000093166) - c.1917T>G (Ensembl:ENSMUST00000093166) - p.Ile639Met (Ensembl:ENSMUST00000165599) - c.1917T>G (Ensembl:ENSMUST00000165599) - p.Ile639Met (Ensembl:ENSMUST00000093165) - c.1917T>G (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3402071417 | 640 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000077.7:g.46145399C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.46145399C>G Locations: - p.Glu640Asp (Ensembl:ENSMUST00000093166) - c.1920G>C (Ensembl:ENSMUST00000093166) - p.Glu640Asp (Ensembl:ENSMUST00000165599) - c.1920G>C (Ensembl:ENSMUST00000165599) - p.Glu640Asp (Ensembl:ENSMUST00000093165) - c.1920G>C (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3402071389 | 641 | M>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.46145396C>G Codon: ATG/ATC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.46145396C>G Locations: - p.Met641Ile (Ensembl:ENSMUST00000093166) - c.1923G>C (Ensembl:ENSMUST00000093166) - p.Met641Ile (Ensembl:ENSMUST00000165599) - c.1923G>C (Ensembl:ENSMUST00000165599) - p.Met641Ile (Ensembl:ENSMUST00000093165) - c.1923G>C (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3389145104 | 654 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000077.7:g.46145359T>C Codon: ACC/GCC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.46145359T>C Locations: - p.Thr654Ala (Ensembl:ENSMUST00000093166) - c.1960A>G (Ensembl:ENSMUST00000093166) - p.Thr654Ala (Ensembl:ENSMUST00000165599) - c.1960A>G (Ensembl:ENSMUST00000165599) - p.Thr654Ala (Ensembl:ENSMUST00000093165) - c.1960A>G (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3389115313 | 671 | N>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.46144842T>G Codon: AAC/CAC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.46144842T>G Locations: - p.Asn671His (Ensembl:ENSMUST00000093166) - c.2011A>C (Ensembl:ENSMUST00000093166) - p.Asn671His (Ensembl:ENSMUST00000165599) - c.2011A>C (Ensembl:ENSMUST00000165599) - p.Asn671His (Ensembl:ENSMUST00000093165) - c.2011A>C (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3389138871 | 701 | F>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.46143485A>G Codon: TTT/TCT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.46143485A>G Locations: - p.Phe701Ser (Ensembl:ENSMUST00000093166) - c.2102T>C (Ensembl:ENSMUST00000093166) - p.Phe701Ser (Ensembl:ENSMUST00000165599) - c.2102T>C (Ensembl:ENSMUST00000165599) - p.Phe701Ser (Ensembl:ENSMUST00000093165) - c.2102T>C (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3389161771 | 736 | I>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000077.7:g.46140616T>A Codon: ATC/TTC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.46140616T>A Locations: - p.Ile736Phe (Ensembl:ENSMUST00000093166) - c.2206A>T (Ensembl:ENSMUST00000093166) - p.Ile736Phe (Ensembl:ENSMUST00000165599) - c.2206A>T (Ensembl:ENSMUST00000165599) - p.Ile736Phe (Ensembl:ENSMUST00000093165) - c.2206A>T (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3389154847 | 749 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.46140577G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.46140577G>T Locations: - p.Leu749Met (Ensembl:ENSMUST00000093166) - c.2245C>A (Ensembl:ENSMUST00000093166) - p.Leu749Met (Ensembl:ENSMUST00000165599) - c.2245C>A (Ensembl:ENSMUST00000165599) - p.Leu749Met (Ensembl:ENSMUST00000093165) - c.2245C>A (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3401551666 | 750 | K>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.46140574T>G Codon: AAG/CAG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.46140574T>G Locations: - p.Lys750Gln (Ensembl:ENSMUST00000093166) - c.2248A>C (Ensembl:ENSMUST00000093166) - p.Lys750Gln (Ensembl:ENSMUST00000165599) - c.2248A>C (Ensembl:ENSMUST00000165599) - p.Lys750Gln (Ensembl:ENSMUST00000093165) - c.2248A>C (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3389152184 | 786 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.46138415A>G Codon: TTT/CTT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.46138415A>G Locations: - p.Phe786Leu (Ensembl:ENSMUST00000093166) - c.2356T>C (Ensembl:ENSMUST00000093166) - p.Phe786Leu (Ensembl:ENSMUST00000165599) - c.2356T>C (Ensembl:ENSMUST00000165599) - p.Phe786Leu (Ensembl:ENSMUST00000093165) - c.2356T>C (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3389150377 | 808 | H>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.46133277G>C Codon: CAC/GAC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.46133277G>C Locations: - p.His808Asp (Ensembl:ENSMUST00000093166) - c.2422C>G (Ensembl:ENSMUST00000093166) - p.His808Asp (Ensembl:ENSMUST00000165599) - c.2422C>G (Ensembl:ENSMUST00000165599) - p.His808Asp (Ensembl:ENSMUST00000093165) - c.2422C>G (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3389138901 | 867 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000077.7:g.46130905C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.46130905C>T Locations: - p.Ala867Thr (Ensembl:ENSMUST00000093166) - c.2599G>A (Ensembl:ENSMUST00000093166) - p.Ala867Thr (Ensembl:ENSMUST00000165599) - c.2599G>A (Ensembl:ENSMUST00000165599) - p.Ala867Thr (Ensembl:ENSMUST00000093165) - c.2599G>A (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3389089914 | 871 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.46130892G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.46130892G>A Locations: - p.Thr871Ile (Ensembl:ENSMUST00000093166) - c.2612C>T (Ensembl:ENSMUST00000093166) - p.Thr871Ile (Ensembl:ENSMUST00000165599) - c.2612C>T (Ensembl:ENSMUST00000165599) - p.Thr871Ile (Ensembl:ENSMUST00000093165) - c.2612C>T (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3389122644 | 927 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.46114927C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.46114927C>T Locations: - p.Val927Met (Ensembl:ENSMUST00000093166) - c.2779G>A (Ensembl:ENSMUST00000093166) - p.Val927Met (Ensembl:ENSMUST00000165599) - c.2779G>A (Ensembl:ENSMUST00000165599) - p.Val927Met (Ensembl:ENSMUST00000093165) - c.2779G>A (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs240617401 | 968 | S>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000077.7:g.46113442G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.46113442G>A Locations: - p.Ser968Phe (Ensembl:ENSMUST00000093166) - c.2903C>T (Ensembl:ENSMUST00000093166) - p.Ser968Phe (Ensembl:ENSMUST00000165599) - c.2903C>T (Ensembl:ENSMUST00000165599) - p.Ser968Phe (Ensembl:ENSMUST00000093165) - c.2903C>T (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3389150380 | 1012 | A>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.77) Somatic: No Accession: NC_000077.7:g.46112168C>A Codon: GCT/TCT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.46112168C>A Locations: - p.Ala1012Ser (Ensembl:ENSMUST00000093166) - c.3034G>T (Ensembl:ENSMUST00000093166) - p.Ala1012Ser (Ensembl:ENSMUST00000165599) - c.3034G>T (Ensembl:ENSMUST00000165599) - p.Ala1012Ser (Ensembl:ENSMUST00000093165) - c.3034G>T (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3389152655 | 1016 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.46099180T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.46099180T>C Locations: - p.Glu1016Gly (Ensembl:ENSMUST00000093166) - c.3047A>G (Ensembl:ENSMUST00000093166) - p.Glu1016Gly (Ensembl:ENSMUST00000165599) - c.3047A>G (Ensembl:ENSMUST00000165599) - p.Glu1016Gly (Ensembl:ENSMUST00000093165) - c.3047A>G (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3402168286 | 1016 | E>T | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000077.7:g.46099181_46099182insTCCCCGTCTCTGCAGTCTCAGGAGGAAGT Codon: -/ACTTCCTCCTGAGACTGCAGAGACGGGGA Consequence type: stop gained Cytogenetic band: 11q Genomic location: NC_000077.7:g.46099181_46099182insTCCCCGTCTCTGCAGTCTCAGGAGGAAGT Locations: - p.Glu1016ThrfsTer4 (Ensembl:ENSMUST00000093166) - c.3045_3046insACTTCCTCCTGAGACTGCAGAGACGGGGA (Ensembl:ENSMUST00000093166) - p.Glu1016ThrfsTer4 (Ensembl:ENSMUST00000165599) - c.3045_3046insACTTCCTCCTGAGACTGCAGAGACGGGGA (Ensembl:ENSMUST00000165599) - p.Glu1016ThrfsTer4 (Ensembl:ENSMUST00000093165) - c.3045_3046insACTTCCTCCTGAGACTGCAGAGACGGGGA (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3389122671 | 1039 | G>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.46098306C>A Codon: GGG/TGG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.46098306C>A Locations: - p.Gly1039Trp (Ensembl:ENSMUST00000093166) - c.3115G>T (Ensembl:ENSMUST00000093166) - p.Gly1039Trp (Ensembl:ENSMUST00000165599) - c.3115G>T (Ensembl:ENSMUST00000165599) - p.Gly1039Trp (Ensembl:ENSMUST00000093165) - c.3115G>T (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3389150155 | 1040 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.46098303C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.46098303C>T Locations: - p.Glu1040Lys (Ensembl:ENSMUST00000093166) - c.3118G>A (Ensembl:ENSMUST00000093166) - p.Glu1040Lys (Ensembl:ENSMUST00000165599) - c.3118G>A (Ensembl:ENSMUST00000165599) - p.Glu1040Lys (Ensembl:ENSMUST00000093165) - c.3118G>A (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3507960912 | 1059 | V>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.46098245A>G Codon: GTT/GCT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.46098245A>G Locations: - p.Val1059Ala (Ensembl:ENSMUST00000093166) - c.3176T>C (Ensembl:ENSMUST00000093166) - p.Val1059Ala (Ensembl:ENSMUST00000165599) - c.3176T>C (Ensembl:ENSMUST00000165599) - p.Val1059Ala (Ensembl:ENSMUST00000093165) - c.3176T>C (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3389147064 | 1060 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.46098243G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.46098243G>A Locations: - p.Pro1060Ser (Ensembl:ENSMUST00000093166) - c.3178C>T (Ensembl:ENSMUST00000093166) - p.Pro1060Ser (Ensembl:ENSMUST00000165599) - c.3178C>T (Ensembl:ENSMUST00000165599) - p.Pro1060Ser (Ensembl:ENSMUST00000093165) - c.3178C>T (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3389138890 | 1066 | G>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.46098224C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.46098224C>T Locations: - p.Gly1066Glu (Ensembl:ENSMUST00000093166) - c.3197G>A (Ensembl:ENSMUST00000093166) - p.Gly1066Glu (Ensembl:ENSMUST00000165599) - c.3197G>A (Ensembl:ENSMUST00000165599) - p.Gly1066Glu (Ensembl:ENSMUST00000093165) - c.3197G>A (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3389145074 | 1067 | T>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.46098221G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.46098221G>A Locations: - p.Thr1067Met (Ensembl:ENSMUST00000093166) - c.3200C>T (Ensembl:ENSMUST00000093166) - p.Thr1067Met (Ensembl:ENSMUST00000165599) - c.3200C>T (Ensembl:ENSMUST00000165599) - p.Thr1067Met (Ensembl:ENSMUST00000093165) - c.3200C>T (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3401953216 | 1111 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000077.7:g.46091588G>A Codon: CCG/TCG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.46091588G>A Locations: - p.Pro1111Ser (Ensembl:ENSMUST00000093166) - c.3331C>T (Ensembl:ENSMUST00000093166) - p.Pro1111Ser (Ensembl:ENSMUST00000165599) - c.3331C>T (Ensembl:ENSMUST00000165599) - p.Pro1111Ser (Ensembl:ENSMUST00000093165) - c.3331C>T (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3389163389 | 1153 | G>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.46089955C>A Codon: GGT/TGT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.46089955C>A Locations: - p.Gly1153Cys (Ensembl:ENSMUST00000093166) - c.3457G>T (Ensembl:ENSMUST00000093166) - p.Gly1153Cys (Ensembl:ENSMUST00000165599) - c.3457G>T (Ensembl:ENSMUST00000165599) - p.Gly1153Cys (Ensembl:ENSMUST00000093165) - c.3457G>T (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3389148498 | 1178 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.46089878G>C Codon: TTC/TTG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.46089878G>C Locations: - p.Phe1178Leu (Ensembl:ENSMUST00000093166) - c.3534C>G (Ensembl:ENSMUST00000093166) - p.Phe1178Leu (Ensembl:ENSMUST00000165599) - c.3534C>G (Ensembl:ENSMUST00000165599) - p.Phe1178Leu (Ensembl:ENSMUST00000093165) - c.3534C>G (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3389150192 | 1179 | C>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.46089876C>A Codon: TGT/TTT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.46089876C>A Locations: - p.Cys1179Phe (Ensembl:ENSMUST00000093166) - c.3536G>T (Ensembl:ENSMUST00000093166) - p.Cys1179Phe (Ensembl:ENSMUST00000165599) - c.3536G>T (Ensembl:ENSMUST00000165599) - p.Cys1179Phe (Ensembl:ENSMUST00000093165) - c.3536G>T (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3412117932 | 1180 | Y>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.46089873T>A Codon: TAT/TTT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.46089873T>A Locations: - p.Tyr1180Phe (Ensembl:ENSMUST00000093166) - c.3539A>T (Ensembl:ENSMUST00000093166) - p.Tyr1180Phe (Ensembl:ENSMUST00000165599) - c.3539A>T (Ensembl:ENSMUST00000165599) - p.Tyr1180Phe (Ensembl:ENSMUST00000093165) - c.3539A>T (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: | |||||||
rs3389152744 | 1233 | S>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.46087191G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.46087191G>A Locations: - p.Ser1233Phe (Ensembl:ENSMUST00000093166) - c.3698C>T (Ensembl:ENSMUST00000093166) - p.Ser1233Phe (Ensembl:ENSMUST00000165599) - c.3698C>T (Ensembl:ENSMUST00000165599) - p.Ser1233Phe (Ensembl:ENSMUST00000093165) - c.3698C>T (Ensembl:ENSMUST00000093165) Source type: large scale study Cross-references: |