Q9QZW0 · AT11C_MOUSE
- ProteinPhospholipid-transporting ATPase 11C
- GeneAtp11c
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids1129 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3410737425 | 28 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.22) Somatic: No Accession: NC_000086.8:g.59366859G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.59366859G>A Locations: - p.Pro28Ser (Ensembl:ENSMUST00000101527) - c.82C>T (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs3389565625 | 30 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000086.8:g.59366853A>T Codon: TCT/ACT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.59366853A>T Locations: - p.Ser30Thr (Ensembl:ENSMUST00000101527) - c.88T>A (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs3389540267 | 40 | F>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000086.8:g.59366823A>T Codon: TTT/ATT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.59366823A>T Locations: - p.Phe40Ile (Ensembl:ENSMUST00000101527) - c.118T>A (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs3410990581 | 43 | N>K | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000086.8:g.59366812_59366813insAGGTAAGTTTGTTTTTTTTAATTAATTAT Codon: AAT/AAATAATTAATTAAAAAAAACAAACTTACCTT Consequence type: stop gained Cytogenetic band: Xq Genomic location: NC_000086.8:g.59366812_59366813insAGGTAAGTTTGTTTTTTTTAATTAATTAT Locations: - p.Asn43LysfsTer2 (Ensembl:ENSMUST00000101527) - c.128_129insATAATTAATTAAAAAAAACAAACTTACCT (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs3410737396 | 45 | I>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000086.8:g.59366808T>A Codon: ATA/TTA Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.59366808T>A Locations: - p.Ile45Leu (Ensembl:ENSMUST00000101527) - c.133A>T (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs3410415075 | 45 | I>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000086.8:g.59366807A>C Codon: ATA/AGA Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.59366807A>C Locations: - p.Ile45Arg (Ensembl:ENSMUST00000101527) - c.134T>G (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs3409168241 | 46 | V>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000086.8:g.59366804A>T Codon: GTC/GAC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.59366804A>T Locations: - p.Val46Asp (Ensembl:ENSMUST00000101527) - c.137T>A (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs3410262302 | 47 | S>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000086.8:g.59366801G>T Codon: TCA/TAA Consequence type: stop gained Cytogenetic band: Xq Genomic location: NC_000086.8:g.59366801G>T Locations: - p.Ser47Ter (Ensembl:ENSMUST00000101527) - c.140C>A (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs3409085713 | 117 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000086.8:g.59349660A>T Codon: GAT/GAA Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.59349660A>T Locations: - p.Asp117Glu (Ensembl:ENSMUST00000101527) - c.351T>A (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs3410483608 | 145 | D>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000086.8:g.59342443C>A Codon: GAT/TAT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.59342443C>A Locations: - p.Asp145Tyr (Ensembl:ENSMUST00000101527) - c.433G>T (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs3410483611 | 147 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000086.8:g.59342437C>G Codon: GTA/CTA Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.59342437C>G Locations: - p.Val147Leu (Ensembl:ENSMUST00000101527) - c.439G>C (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs3410371908 | 148 | E>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000086.8:g.59342434C>A Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: Xq Genomic location: NC_000086.8:g.59342434C>A Locations: - p.Glu148Ter (Ensembl:ENSMUST00000101527) - c.442G>T (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs3410513178 | 151 | A>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000086.8:g.59342424G>C Codon: GCA/GGA Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.59342424G>C Locations: - p.Ala151Gly (Ensembl:ENSMUST00000101527) - c.452C>G (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs3410413546 | 152 | N>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000086.8:g.59342420A>C Codon: AAT/AAG Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.59342420A>C Locations: - p.Asn152Lys (Ensembl:ENSMUST00000101527) - c.456T>G (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs3410483660 | 158 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000086.8:g.59342404C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.59342404C>T Locations: - p.Asp158Asn (Ensembl:ENSMUST00000101527) - c.472G>A (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs3389509752 | 205 | L>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000086.8:g.59340595G>T Codon: CTC/ATC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.59340595G>T Locations: - p.Leu205Ile (Ensembl:ENSMUST00000101527) - c.613C>A (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs3554697545 | 206 | R>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.28) Somatic: No Accession: NC_000086.8:g.59340591C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.59340591C>T Locations: - p.Arg206Gln (Ensembl:ENSMUST00000101527) - c.617G>A (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs3554430842 | 220 | R>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000086.8:g.59340549C>T Codon: AGG/AAG Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.59340549C>T Locations: - p.Arg220Lys (Ensembl:ENSMUST00000101527) - c.659G>A (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs3389518447 | 221 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000086.8:g.59339014A>C Codon: TTT/TTG Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.59339014A>C Locations: - p.Phe221Leu (Ensembl:ENSMUST00000101527) - c.663T>G (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs3389574802 | 222 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000086.8:g.59339013C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.59339013C>T Locations: - p.Val222Ile (Ensembl:ENSMUST00000101527) - c.664G>A (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs3389562359 | 261 | A>S | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000086.8:g.59337357_59337358insCTCCACACTACCTCAACCATCACTC Codon: GTT/GTGAGTGATGGTTGAGGTAGTGTGGAGT Consequence type: stop gained Cytogenetic band: Xq Genomic location: NC_000086.8:g.59337357_59337358insCTCCACACTACCTCAACCATCACTC Locations: - p.Ala261SerfsTer4 (Ensembl:ENSMUST00000101527) - c.779_780insGAGTGATGGTTGAGGTAGTGTGGAG (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs3410737384 | 288 | I>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000086.8:g.59336076T>G Codon: ATT/CTT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.59336076T>G Locations: - p.Ile288Leu (Ensembl:ENSMUST00000101527) - c.862A>C (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs3410513182 | 300 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000086.8:g.59336040G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.59336040G>T Locations: - p.Leu300Met (Ensembl:ENSMUST00000101527) - c.898C>A (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs3409985285 | 301 | T>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000086.8:g.59336036G>T Codon: ACC/AAC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.59336036G>T Locations: - p.Thr301Asn (Ensembl:ENSMUST00000101527) - c.902C>A (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs3410413564 | 306 | C>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000086.8:g.59336021_59336022insTTTTATTTT Codon: TGC/TAAAATAAAAGC Consequence type: stop gained Cytogenetic band: Xq Genomic location: NC_000086.8:g.59336021_59336022insTTTTATTTT Locations: - p.Cys306delinsTer (Ensembl:ENSMUST00000101527) - c.916_917insAAAATAAAA (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs3389558115 | 306 | C>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000086.8:g.59336022A>T Codon: TGC/AGC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.59336022A>T Locations: - p.Cys306Ser (Ensembl:ENSMUST00000101527) - c.916T>A (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs3410483690 | 308 | T>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000086.8:g.59336015G>T Codon: ACT/AAT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.59336015G>T Locations: - p.Thr308Asn (Ensembl:ENSMUST00000101527) - c.923C>A (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs3410371827 | 315 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000086.8:g.59335993A>C Codon: AGT/AGG Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.59335993A>C Locations: - p.Ser315Arg (Ensembl:ENSMUST00000101527) - c.945T>G (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs3389560370 | 326 | Q>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000086.8:g.59335962G>A Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: Xq Genomic location: NC_000086.8:g.59335962G>A Locations: - p.Gln326Ter (Ensembl:ENSMUST00000101527) - c.976C>T (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs3389527681 | 327 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000086.8:g.59335957C>A Codon: AAG/AAT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.59335957C>A Locations: - p.Lys327Asn (Ensembl:ENSMUST00000101527) - c.981G>T (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs3389540257 | 330 | K>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000086.8:g.59335950T>A Codon: AAG/TAG Consequence type: stop gained Cytogenetic band: Xq Genomic location: NC_000086.8:g.59335950T>A Locations: - p.Lys330Ter (Ensembl:ENSMUST00000101527) - c.988A>T (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs3554955017 | 476 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000086.8:g.59326111T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.59326111T>C Locations: - p.Thr476Ala (Ensembl:ENSMUST00000101527) - c.1426A>G (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs3554637649 | 516 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000086.8:g.59325436C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.59325436C>G Locations: - p.Gln516His (Ensembl:ENSMUST00000101527) - c.1548G>C (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs3389561214 | 521 | R>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000086.8:g.59325422C>A Codon: AGA/ATA Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.59325422C>A Locations: - p.Arg521Ile (Ensembl:ENSMUST00000101527) - c.1562G>T (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs3389561214 | 521 | R>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000086.8:g.59325422C>T Codon: AGA/AAA Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.59325422C>T Locations: - p.Arg521Lys (Ensembl:ENSMUST00000101527) - c.1562G>A (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs3389509800 | 573 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000086.8:g.59322790C>T Codon: GTA/ATA Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.59322790C>T Locations: - p.Val573Ile (Ensembl:ENSMUST00000101527) - c.1717G>A (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs3389518449 | 586 | E>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000086.8:g.59322751C>G Codon: GAA/CAA Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.59322751C>G Locations: - p.Glu586Gln (Ensembl:ENSMUST00000101527) - c.1756G>C (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs3389468967 | 609 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.65) Somatic: No Accession: NC_000086.8:g.59322093T>G Codon: GAA/GAC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.59322093T>G Locations: - p.Glu609Asp (Ensembl:ENSMUST00000101527) - c.1827A>C (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs3389562319 | 624 | D>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000086.8:g.59322049T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.59322049T>C Locations: - p.Asp624Gly (Ensembl:ENSMUST00000101527) - c.1871A>G (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs3389509789 | 628 | K>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000086.8:g.59322037T>A Codon: AAA/ATA Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.59322037T>A Locations: - p.Lys628Ile (Ensembl:ENSMUST00000101527) - c.1883A>T (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs3389561743 | 704 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000086.8:g.59315200T>C Codon: ACC/GCC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.59315200T>C Locations: - p.Thr704Ala (Ensembl:ENSMUST00000101527) - c.2110A>G (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs214930582 | 707 | E>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000086.8:g.59315191C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.59315191C>G Locations: - p.Glu707Gln (Ensembl:ENSMUST00000101527) - c.2119G>C (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs3389577257 | 709 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.34) Somatic: No Accession: NC_000086.8:g.59315183T>A Codon: GAA/GAT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.59315183T>A Locations: - p.Glu709Asp (Ensembl:ENSMUST00000101527) - c.2127A>T (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs3389560413 | 712 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000086.8:g.59315174T>A Codon: GAA/GAT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.59315174T>A Locations: - p.Glu712Asp (Ensembl:ENSMUST00000101527) - c.2136A>T (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs3389577333 | 724 | K>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000086.8:g.59315139T>A Codon: AAG/ATG Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.59315139T>A Locations: - p.Lys724Met (Ensembl:ENSMUST00000101527) - c.2171A>T (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs3389570497 | 747 | Y>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000086.8:g.59312247T>A Codon: TAT/TTT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.59312247T>A Locations: - p.Tyr747Phe (Ensembl:ENSMUST00000101527) - c.2240A>T (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs3413157935 | 762 | S>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000086.8:g.59312202G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.59312202G>A Locations: - p.Ser762Phe (Ensembl:ENSMUST00000101527) - c.2285C>T (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs3389560371 | 762 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000086.8:g.59312203A>G Codon: TCT/CCT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.59312203A>G Locations: - p.Ser762Pro (Ensembl:ENSMUST00000101527) - c.2284T>C (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs3389565568 | 763 | S>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000086.8:g.59312200T>A Codon: AGT/TGT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.59312200T>A Locations: - p.Ser763Cys (Ensembl:ENSMUST00000101527) - c.2287A>T (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs3389570462 | 765 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.29) Somatic: No Accession: NC_000086.8:g.59312192A>T Codon: GAT/GAA Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.59312192A>T Locations: - p.Asp765Glu (Ensembl:ENSMUST00000101527) - c.2295T>A (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs264055111 | 766 | C>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000086.8:g.59312190C>G Codon: TGT/TCT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.59312190C>G Locations: - p.Cys766Ser (Ensembl:ENSMUST00000101527) - c.2297G>C (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs3409168204 | 790-791 | MA>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000086.8:g.59312117_59312118insGGATGGCACCATTAC Codon: -/TAATGGTGCCATCCG Consequence type: stop gained Cytogenetic band: Xq Genomic location: NC_000086.8:g.59312117_59312118insGGATGGCACCATTAC Locations: - p.Met790_Ala791insTer (Ensembl:ENSMUST00000101527) - c.2370_2371insTAATGGTGCCATCCG (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs3408132993 | 792 | P>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000086.8:g.59312113G>C Codon: CCA/GCA Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.59312113G>C Locations: - p.Pro792Ala (Ensembl:ENSMUST00000101527) - c.2374C>G (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs249984427 | 958 | H>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000086.8:g.59288214G>A Codon: CAT/TAT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.59288214G>A Locations: - p.His958Tyr (Ensembl:ENSMUST00000101527) - c.2872C>T (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs3389555181 | 971 | F>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000086.8:g.59288175A>T Codon: TTC/ATC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.59288175A>T Locations: - p.Phe971Ile (Ensembl:ENSMUST00000101527) - c.2911T>A (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs3389509766 | 993 | W>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000086.8:g.59286184C>T Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: Xq Genomic location: NC_000086.8:g.59286184C>T Locations: - p.Trp993Ter (Ensembl:ENSMUST00000101527) - c.2979G>A (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs3410482267 | 998 | I>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000086.8:g.59286170A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.59286170A>G Locations: - p.Ile998Thr (Ensembl:ENSMUST00000101527) - c.2993T>C (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs3389570545 | 1107 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.31) Somatic: No Accession: NC_000086.8:g.59274582A>G Codon: TCA/CCA Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.59274582A>G Locations: - p.Ser1107Pro (Ensembl:ENSMUST00000101527) - c.3319T>C (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs3389577304 | 1124 | D>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000086.8:g.59274531C>A Codon: GAC/TAC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.59274531C>A Locations: - p.Asp1124Tyr (Ensembl:ENSMUST00000101527) - c.3370G>T (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: | |||||||
rs3389555746 | 1127 | N>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000086.8:g.59274521T>A Codon: AAT/ATT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.59274521T>A Locations: - p.Asn1127Ile (Ensembl:ENSMUST00000101527) - c.3380A>T (Ensembl:ENSMUST00000101527) Source type: large scale study Cross-references: |