Q68FM7 · Q68FM7_MOUSE
- ProteinRho guanine nucleotide exchange factor (GEF) 11
- GeneArhgef11
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids1552 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score2/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3388631164 | 22 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000069.7:g.87590824A>T Codon: ACA/TCA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87590824A>T Locations: - p.Thr22Ser (Ensembl:ENSMUST00000039476) - c.64A>T (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3388639572 | 26 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000069.7:g.87590837C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87590837C>T Locations: - p.Thr26Ile (Ensembl:ENSMUST00000039476) - c.77C>T (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3388640378 | 64 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000069.7:g.87591842T>A Codon: GAT/GAA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87591842T>A Locations: - p.Asp64Glu (Ensembl:ENSMUST00000039476) - c.192T>A (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3388640418 | 119 | L>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000069.7:g.87595144C>A Codon: CTC/ATC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87595144C>A Locations: - p.Leu119Ile (Ensembl:ENSMUST00000039476) - c.355C>A (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3388632411 | 134 | Q>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000069.7:g.87595189C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 3q Genomic location: NC_000069.7:g.87595189C>T Locations: - p.Gln134Ter (Ensembl:ENSMUST00000039476) - c.400C>T (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3388638833 | 137 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000069.7:g.87595198T>A Codon: TCT/ACT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87595198T>A Locations: - p.Ser137Thr (Ensembl:ENSMUST00000039476) - c.409T>A (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs236062432 | 139 | S>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000069.7:g.87595204T>G Codon: TCA/GCA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87595204T>G Locations: - p.Ser139Ala (Ensembl:ENSMUST00000039476) - c.415T>G (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs48728314 | 147 | M>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.26) Somatic: No Accession: NC_000069.7:g.87595229T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87595229T>C Locations: - p.Met147Thr (Ensembl:ENSMUST00000039476) - c.440T>C (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3388619412 | 232 | G>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000069.7:g.87602816G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87602816G>A Locations: - p.Gly232Ser (Ensembl:ENSMUST00000039476) - c.694G>A (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3388638810 | 246 | R>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000069.7:g.87604687A>C Codon: AGA/AGC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87604687A>C Locations: - p.Arg246Ser (Ensembl:ENSMUST00000039476) - c.738A>C (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3388631225 | 247 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.69) Somatic: No Accession: NC_000069.7:g.87604688A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87604688A>G Locations: - p.Thr247Ala (Ensembl:ENSMUST00000039476) - c.739A>G (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3388626959 | 274 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000069.7:g.87605367G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87605367G>A Locations: - p.Ser274Asn (Ensembl:ENSMUST00000039476) - c.821G>A (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3388632420 | 283 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000069.7:g.87606093G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87606093G>A Locations: - p.Val283Ile (Ensembl:ENSMUST00000039476) - c.847G>A (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3388626987 | 296 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000069.7:g.87606133C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87606133C>T Locations: - p.Pro296Leu (Ensembl:ENSMUST00000039476) - c.887C>T (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3388619466 | 323 | I>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000069.7:g.87609470A>G Codon: ATA/ATG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87609470A>G Locations: - p.Ile323Met (Ensembl:ENSMUST00000039476) - c.969A>G (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3388626340 | 350 | I>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000069.7:g.87609772T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87609772T>C Locations: - p.Ile350Thr (Ensembl:ENSMUST00000039476) - c.1049T>C (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3393419545 | 356 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000069.7:g.87609790A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87609790A>G Locations: - p.Lys356Arg (Ensembl:ENSMUST00000039476) - c.1067A>G (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3393337199 | 358 | K>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000069.7:g.87609796A>T Codon: AAG/ATG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87609796A>T Locations: - p.Lys358Met (Ensembl:ENSMUST00000039476) - c.1073A>T (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3388626248 | 422 | M>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.39) Somatic: No Accession: NC_000069.7:g.87618831A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87618831A>G Locations: - p.Met422Val (Ensembl:ENSMUST00000039476) - c.1264A>G (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3388636218 | 428 | D>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000069.7:g.87618849G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87618849G>T Locations: - p.Asp428Tyr (Ensembl:ENSMUST00000039476) - c.1282G>T (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3388634389 | 474 | N>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000069.7:g.87620569A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87620569A>G Locations: - p.Asn474Ser (Ensembl:ENSMUST00000039476) - c.1421A>G (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3388639576 | 491 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000069.7:g.87620621G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87620621G>T Locations: - p.Glu491Asp (Ensembl:ENSMUST00000039476) - c.1473G>T (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3393319857 | 503 | K>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000069.7:g.87623297A>T Codon: AAA/ATA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87623297A>T Locations: - p.Lys503Ile (Ensembl:ENSMUST00000039476) - c.1508A>T (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3388631196 | 504 | Y>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000069.7:g.87623300A>C Codon: TAT/TCT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87623300A>C Locations: - p.Tyr504Ser (Ensembl:ENSMUST00000039476) - c.1511A>C (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3388636204 | 515 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000069.7:g.87624354C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87624354C>T Locations: - p.Ala515Val (Ensembl:ENSMUST00000039476) - c.1544C>T (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs232434547 | 523 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000069.7:g.87624377A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87624377A>G Locations: - p.Thr523Ala (Ensembl:ENSMUST00000039476) - c.1567A>G (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3388641175 | 528 | R>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000069.7:g.87624392C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87624392C>T Locations: - p.Arg528Trp (Ensembl:ENSMUST00000039476) - c.1582C>T (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3388640442 | 533 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000069.7:g.87624407T>A Codon: TCC/ACC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87624407T>A Locations: - p.Ser533Thr (Ensembl:ENSMUST00000039476) - c.1597T>A (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3388619490 | 536 | A>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.21) Somatic: No Accession: NC_000069.7:g.87624416G>T Codon: GCA/TCA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87624416G>T Locations: - p.Ala536Ser (Ensembl:ENSMUST00000039476) - c.1606G>T (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3393195665 | 539 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.17) Somatic: No Accession: NC_000069.7:g.87624425A>T Codon: ACC/TCC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87624425A>T Locations: - p.Thr539Ser (Ensembl:ENSMUST00000039476) - c.1615A>T (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3413100971 | 544 | D>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000069.7:g.87624440G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87624440G>C Locations: - p.Asp544His (Ensembl:ENSMUST00000039476) - c.1630G>C (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3388633898 | 566 | D>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000069.7:g.87624756A>T Codon: GAC/GTC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87624756A>T Locations: - p.Asp566Val (Ensembl:ENSMUST00000039476) - c.1697A>T (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3388633868 | 585 | S>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000069.7:g.87624813G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87624813G>T Locations: - p.Ser585Ile (Ensembl:ENSMUST00000039476) - c.1754G>T (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3388640446 | 605 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000069.7:g.87629709G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87629709G>A Locations: - p.Ser605Asn (Ensembl:ENSMUST00000039476) - c.1814G>A (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3388639058 | 649 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000069.7:g.87632837G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87632837G>C Locations: - p.Glu649Asp (Ensembl:ENSMUST00000039476) - c.1947G>C (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3388640406 | 681 | S>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000069.7:g.87632932C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87632932C>T Locations: - p.Ser681Leu (Ensembl:ENSMUST00000039476) - c.2042C>T (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3388636188 | 732 | G>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000069.7:g.87633341G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87633341G>A Locations: - p.Gly732Ser (Ensembl:ENSMUST00000039476) - c.2194G>A (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs254084216 | 739 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000069.7:g.87633363C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87633363C>T Locations: - p.Pro739Leu (Ensembl:ENSMUST00000039476) - c.2216C>T (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3388639647 | 765 | R>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000069.7:g.87633441G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87633441G>A Locations: - p.Arg765Gln (Ensembl:ENSMUST00000039476) - c.2294G>A (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3388639392 | 796 | K>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000069.7:g.87633753A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87633753A>G Locations: - p.Lys796Glu (Ensembl:ENSMUST00000039476) - c.2386A>G (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs30257257 | 806 | S>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000069.7:g.87633783T>G Codon: TCA/GCA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87633783T>G Locations: - p.Ser806Ala (Ensembl:ENSMUST00000039476) - c.2416T>G (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs30257257 | 806 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000069.7:g.87633783T>C Codon: TCA/CCA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87633783T>C Locations: - p.Ser806Pro (Ensembl:ENSMUST00000039476) - c.2416T>C (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs30257257 | 806 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000069.7:g.87633783T>A Codon: TCA/ACA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87633783T>A Locations: - p.Ser806Thr (Ensembl:ENSMUST00000039476) - c.2416T>A (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3388626940 | 832 | E>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000069.7:g.87634478A>T Codon: GAG/GTG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87634478A>T Locations: - p.Glu832Val (Ensembl:ENSMUST00000039476) - c.2495A>T (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3388639630 | 835 | I>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000069.7:g.87634486A>T Codon: ATT/TTT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87634486A>T Locations: - p.Ile835Phe (Ensembl:ENSMUST00000039476) - c.2503A>T (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3541516347 | 846 | R>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000069.7:g.87634520G>T Codon: CGG/CTG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87634520G>T Locations: - p.Arg846Leu (Ensembl:ENSMUST00000039476) - c.2537G>T (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3393337195 | 857 | Q>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000069.7:g.87634708A>T Codon: CAA/CTA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87634708A>T Locations: - p.Gln857Leu (Ensembl:ENSMUST00000039476) - c.2570A>T (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3393098585 | 858 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000069.7:g.87634710G>C Codon: GTA/CTA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87634710G>C Locations: - p.Val858Leu (Ensembl:ENSMUST00000039476) - c.2572G>C (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3393308109 | 870 | L>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000069.7:g.87634746C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87634746C>G Locations: - p.Leu870Val (Ensembl:ENSMUST00000039476) - c.2608C>G (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3388626917 | 890 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000069.7:g.87635274C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87635274C>T Locations: - p.Ala890Val (Ensembl:ENSMUST00000039476) - c.2669C>T (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3388626957 | 897 | R>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000069.7:g.87635295G>T Codon: CGG/CTG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87635295G>T Locations: - p.Arg897Leu (Ensembl:ENSMUST00000039476) - c.2690G>T (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3388632443 | 901 | L>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000069.7:g.87635307T>G Codon: CTT/CGT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87635307T>G Locations: - p.Leu901Arg (Ensembl:ENSMUST00000039476) - c.2702T>G (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3393308140 | 927 | A>AG | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000069.7:g.87635403_87635404insAGTCCAGGCCCTCCCTCCCTACCCGCTGTGTGCTTGATGATGTTCTCTAGCAGCAGTGGGTAGGGAGGGAGGGCC Codon: GCG/GCGGGTAGGGAGGGAGGGCCAGTCCAGGCCCTCCCTCCCTACCCGCTGTGTGCTTGATGATGTTCTCTAGCAGCAGTG Consequence type: stop gained Cytogenetic band: 3q Genomic location: NC_000069.7:g.87635403_87635404insAGTCCAGGCCCTCCCTCCCTACCCGCTGTGTGCTTGATGATGTTCTCTAGCAGCAGTGGGTAGGGAGGGAGGGCC Locations: - p.Ala927insAlaGlyArgGluGlyGlyProValGlnAlaLeuProProTyrProLeuCysAlaTerTerCysSerLeuAlaAlaVal (Ensembl:ENSMUST00000039476) - c.2782+16_2782+17insAGTCCAGGCCCTCCCTCCCTACCCGCTGTGTGCTTGATGATGTTCTCTAGCAGCAGTGGGTAGGGAGGGAGGGCC (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs586744550 | 927 | A>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000069.7:g.87635385C>A Codon: GCG/GAG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87635385C>A Locations: - p.Ala927Glu (Ensembl:ENSMUST00000039476) - c.2780C>A (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs228014195 | 933 | Y>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000069.7:g.87635838A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87635838A>G Locations: - p.Tyr933Cys (Ensembl:ENSMUST00000039476) - c.2798A>G (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs31624766 | 933 | Y>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000069.7:g.87635837T>C Codon: TAT/CAT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87635837T>C Locations: - p.Tyr933His (Ensembl:ENSMUST00000039476) - c.2797T>C (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3388639643 | 946 | I>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000069.7:g.87635877T>A Codon: ATT/AAT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87635877T>A Locations: - p.Ile946Asn (Ensembl:ENSMUST00000039476) - c.2837T>A (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3388639406 | 948 | K>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000069.7:g.87635882A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87635882A>G Locations: - p.Lys948Glu (Ensembl:ENSMUST00000039476) - c.2842A>G (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3541517629 | 979 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000069.7:g.87635976G>C Codon: AGC/ACC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87635976G>C Locations: - p.Ser979Thr (Ensembl:ENSMUST00000039476) - c.2936G>C (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3388639610 | 982 | L>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000069.7:g.87635985T>C Codon: TTG/TCG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87635985T>C Locations: - p.Leu982Ser (Ensembl:ENSMUST00000039476) - c.2945T>C (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3388631156 | 1009 | D>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000069.7:g.87636576A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87636576A>G Locations: - p.Asp1009Gly (Ensembl:ENSMUST00000039476) - c.3026A>G (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3388639601 | 1035 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000069.7:g.87636858T>C Codon: CTC/CCC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87636858T>C Locations: - p.Leu1035Pro (Ensembl:ENSMUST00000039476) - c.3104T>C (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3388631185 | 1049 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000069.7:g.87636900A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87636900A>G Locations: - p.Lys1049Arg (Ensembl:ENSMUST00000039476) - c.3146A>G (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3388619425 | 1064 | R>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000069.7:g.87636945G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87636945G>A Locations: - p.Arg1064His (Ensembl:ENSMUST00000039476) - c.3191G>A (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3388626296 | 1066 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000069.7:g.87636950G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87636950G>A Locations: - p.Val1066Met (Ensembl:ENSMUST00000039476) - c.3196G>A (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3388631184 | 1073 | F>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000069.7:g.87637728T>G Codon: TTC/TGC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87637728T>G Locations: - p.Phe1073Cys (Ensembl:ENSMUST00000039476) - c.3218T>G (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs262987509 | 1122 | N>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.95) Somatic: No Accession: NC_000069.7:g.87638551A>T Codon: AAC/ATC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87638551A>T Locations: - p.Asn1122Ile (Ensembl:ENSMUST00000039476) - c.3365A>T (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3388632432 | 1128 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000069.7:g.87638568G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87638568G>A Locations: - p.Gly1128Arg (Ensembl:ENSMUST00000039476) - c.3382G>A (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3541562467 | 1153 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000069.7:g.87639124A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87639124A>G Locations: - p.Glu1153Gly (Ensembl:ENSMUST00000039476) - c.3458A>G (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs30494245 | 1164 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000069.7:g.87639972G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87639972G>A Locations: - p.Gly1164Arg (Ensembl:ENSMUST00000039476) - c.3490G>A (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs238207235 | 1188 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000069.7:g.87640046G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87640046G>C Locations: - p.Glu1188Asp (Ensembl:ENSMUST00000039476) - c.3564G>C (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs250046249 | 1195 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000069.7:g.87640066C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87640066C>T Locations: - p.Pro1195Leu (Ensembl:ENSMUST00000039476) - c.3584C>T (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3411437338 | 1210 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.18) Somatic: No Accession: NC_000069.7:g.87640110G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87640110G>A Locations: - p.Asp1210Asn (Ensembl:ENSMUST00000039476) - c.3628G>A (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3388626934 | 1223 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000069.7:g.87640151G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87640151G>C Locations: - p.Glu1223Asp (Ensembl:ENSMUST00000039476) - c.3669G>C (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3388634363 | 1228 | A>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000069.7:g.87640164G>C Codon: GCT/CCT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87640164G>C Locations: - p.Ala1228Pro (Ensembl:ENSMUST00000039476) - c.3682G>C (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3393419879 | 1245 | L>Q | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000069.7:g.87640490_87640491insAGCCTGAGTCTTCACAGTGTGACCAGGCAGCAGGCTCCACAGGATAAGG Codon: CTG/CAGCCTGAGTCTTCACAGTGTGACCAGGCAGCAGGCTCCACAGGATAAGGTG Consequence type: stop gained Cytogenetic band: 3q Genomic location: NC_000069.7:g.87640490_87640491insAGCCTGAGTCTTCACAGTGTGACCAGGCAGCAGGCTCCACAGGATAAGG Locations: - p.Leu1245GlnfsTer16 (Ensembl:ENSMUST00000039476) - c.3733_3734insAGCCTGAGTCTTCACAGTGTGACCAGGCAGCAGGCTCCACAGGATAAGG (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs222425271 | 1257 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000069.7:g.87640527A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87640527A>G Locations: - p.Glu1257Gly (Ensembl:ENSMUST00000039476) - c.3770A>G (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs240617076 | 1269 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000069.7:g.87640562G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87640562G>A Locations: - p.Val1269Ile (Ensembl:ENSMUST00000039476) - c.3805G>A (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3388634396 | 1279 | G>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000069.7:g.87640593G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87640593G>A Locations: - p.Gly1279Glu (Ensembl:ENSMUST00000039476) - c.3836G>A (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3541634010 | 1287 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.29) Somatic: No Accession: NC_000069.7:g.87640616A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87640616A>G Locations: - p.Ile1287Val (Ensembl:ENSMUST00000039476) - c.3859A>G (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3388626302 | 1313 | H>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000069.7:g.87640694C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87640694C>T Locations: - p.His1313Tyr (Ensembl:ENSMUST00000039476) - c.3937C>T (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3393110737 | 1328 | E>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000069.7:g.87640739G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87640739G>C Locations: - p.Glu1328Gln (Ensembl:ENSMUST00000039476) - c.3982G>C (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3388639041 | 1342 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000069.7:g.87640781C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87640781C>T Locations: - p.Pro1342Ser (Ensembl:ENSMUST00000039476) - c.4024C>T (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3388639040 | 1391 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.24) Somatic: No Accession: NC_000069.7:g.87641847G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87641847G>A Locations: - p.Ala1391Thr (Ensembl:ENSMUST00000039476) - c.4171G>A (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3388641144 | 1423 | C>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000069.7:g.87642735T>A Codon: TGT/AGT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87642735T>A Locations: - p.Cys1423Ser (Ensembl:ENSMUST00000039476) - c.4267T>A (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3388640433 | 1429 | W>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000069.7:g.87642755G>C Codon: TGG/TGC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87642755G>C Locations: - p.Trp1429Cys (Ensembl:ENSMUST00000039476) - c.4287G>C (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs229309853 | 1434 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000069.7:g.87642769C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87642769C>T Locations: - p.Pro1434Leu (Ensembl:ENSMUST00000039476) - c.4301C>T (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3388632842 | 1438 | G>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000069.7:g.87642781G>T Codon: GGA/GTA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87642781G>T Locations: - p.Gly1438Val (Ensembl:ENSMUST00000039476) - c.4313G>T (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs217080054 | 1521 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000069.7:g.87643263C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87643263C>T Locations: - p.Pro1521Ser (Ensembl:ENSMUST00000039476) - c.4561C>T (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs224699886 | 1536 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.21) Somatic: No Accession: NC_000069.7:g.87644356G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87644356G>A Locations: - p.Asp1536Asn (Ensembl:ENSMUST00000039476) - c.4606G>A (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3388639048 | 1542 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000069.7:g.87644375G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87644375G>A Locations: - p.Ser1542Asn (Ensembl:ENSMUST00000039476) - c.4625G>A (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: | |||||||
rs3388639634 | 1549 | S>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000069.7:g.87644396C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.87644396C>T Locations: - p.Ser1549Leu (Ensembl:ENSMUST00000039476) - c.4646C>T (Ensembl:ENSMUST00000039476) Source type: large scale study Cross-references: |