Q6P1G2 · KDM2B_MOUSE
- ProteinLysine-specific demethylase 2B
- GeneKdm2b
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids1309 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3388787624 | 17 | Q>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000071.7:g.123125853T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123125853T>C Locations: - p.Gln17Arg (Ensembl:ENSMUST00000046073) - c.50A>G (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3388795103 | 47 | L>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.27) Somatic: No Accession: NC_000071.7:g.123125764A>T Codon: TTA/ATA Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123125764A>T Locations: - p.Leu47Ile (Ensembl:ENSMUST00000046073) - c.139T>A (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3388782360 | 58 | G>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.123125730C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123125730C>T Locations: - p.Gly58Asp (Ensembl:ENSMUST00000046073) - c.173G>A (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3388771845 | 61 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.123122599A>T Codon: TTT/TTA Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123122599A>T Locations: - p.Phe61Leu (Ensembl:ENSMUST00000046073) - c.183T>A (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs864256217 | 134 | A>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000071.7:g.123099556C>G Codon: GCA/CCA Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123099556C>G Locations: - p.Ala134Pro (Ensembl:ENSMUST00000046073) - c.400G>C (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3388790954 | 178 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000071.7:g.123099132T>G Codon: GAA/GAC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123099132T>G Locations: - p.Glu178Asp (Ensembl:ENSMUST00000046073) - c.534A>C (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3388779141 | 209 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.123087192C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123087192C>T Locations: - p.Asp209Asn (Ensembl:ENSMUST00000046073) - c.625G>A (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3388790351 | 230 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.123085940A>G Codon: TTT/CTT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123085940A>G Locations: - p.Phe230Leu (Ensembl:ENSMUST00000046073) - c.688T>C (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3388790525 | 294 | F>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.123079090A>T Codon: TTC/ATC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123079090A>T Locations: - p.Phe294Ile (Ensembl:ENSMUST00000046073) - c.880T>A (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3388782310 | 299 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.123079075G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123079075G>T Locations: - p.Leu299Met (Ensembl:ENSMUST00000046073) - c.895C>A (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3395759769 | 304 | V>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.123079059A>T Codon: GTG/GAG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123079059A>T Locations: - p.Val304Glu (Ensembl:ENSMUST00000046073) - c.911T>A (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3395903616 | 305 | P>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.123079057G>T Codon: CCC/ACC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123079057G>T Locations: - p.Pro305Thr (Ensembl:ENSMUST00000046073) - c.913C>A (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3395765567 | 306 | M>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.123079053A>C Codon: ATG/AGG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123079053A>C Locations: - p.Met306Arg (Ensembl:ENSMUST00000046073) - c.917T>G (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3388771857 | 313 | I>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.123079032A>T Codon: ATC/AAC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123079032A>T Locations: - p.Ile313Asn (Ensembl:ENSMUST00000046073) - c.938T>A (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3388779171 | 330 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000071.7:g.123072887C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123072887C>G Locations: - p.Glu330Asp (Ensembl:ENSMUST00000046073) - c.990G>C (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs37683655 | 384 | C>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000071.7:g.123070945C>A Codon: TGC/TTC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123070945C>A Locations: - p.Cys384Phe (Ensembl:ENSMUST00000046073) - c.1151G>T (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3388788587 | 400 | E>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000071.7:g.123070898_123070899insTCCACACTACCTCAACCATCACTCA Codon: -/TGAGTGATGGTTGAGGTAGTGTGGA Consequence type: stop gained Cytogenetic band: 5q Genomic location: NC_000071.7:g.123070898_123070899insTCCACACTACCTCAACCATCACTCA Locations: - p.Glu400Ter (Ensembl:ENSMUST00000046073) - c.1197_1198insTGAGTGATGGTTGAGGTAGTGTGGA (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3388771789 | 401 | E>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000071.7:g.123070894T>G Codon: GAA/GCA Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123070894T>G Locations: - p.Glu401Ala (Ensembl:ENSMUST00000046073) - c.1202A>C (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs232789409 | 404 | G>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.47) Somatic: No Accession: NC_000071.7:g.123070886C>T Codon: GGT/AGT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123070886C>T Locations: - p.Gly404Ser (Ensembl:ENSMUST00000046073) - c.1210G>A (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3388795075 | 424 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000071.7:g.123070825G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123070825G>A Locations: - p.Pro424Leu (Ensembl:ENSMUST00000046073) - c.1271C>T (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3388790931 | 446 | L>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.123070759A>C Codon: TTG/TGG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123070759A>C Locations: - p.Leu446Trp (Ensembl:ENSMUST00000046073) - c.1337T>G (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3388761251 | 452 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000071.7:g.123070740T>G Codon: GAA/GAC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123070740T>G Locations: - p.Glu452Asp (Ensembl:ENSMUST00000046073) - c.1356A>C (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs36745328 | 461 | T>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.16) Somatic: No Accession: NC_000071.7:g.123070714G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123070714G>A Locations: - p.Thr461Met (Ensembl:ENSMUST00000046073) - c.1382C>T (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3396187004 | 484 | E>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000071.7:g.123070645T>G Codon: GAA/GCA Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123070645T>G Locations: - p.Glu484Ala (Ensembl:ENSMUST00000046073) - c.1451A>C (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3388761232 | 486 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.123070640C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123070640C>T Locations: - p.Glu486Lys (Ensembl:ENSMUST00000046073) - c.1456G>A (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3396052360 | 487 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.123070636A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123070636A>G Locations: - p.Leu487Pro (Ensembl:ENSMUST00000046073) - c.1460T>C (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3396172188 | 490 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.123070626C>A Codon: TTG/TTT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123070626C>A Locations: - p.Leu490Phe (Ensembl:ENSMUST00000046073) - c.1470G>T (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3395451037 | 491 | K>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000071.7:g.123070625T>G Codon: AAA/CAA Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123070625T>G Locations: - p.Lys491Gln (Ensembl:ENSMUST00000046073) - c.1471A>C (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3388779134 | 498 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.123070603T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123070603T>C Locations: - p.Glu498Gly (Ensembl:ENSMUST00000046073) - c.1493A>G (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3388790514 | 531 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.123059508G>C Codon: GAC/GAG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123059508G>C Locations: - p.Asp531Glu (Ensembl:ENSMUST00000046073) - c.1593C>G (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs215818515 | 534 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.48) Somatic: No Accession: NC_000071.7:g.123059500G>C Codon: ACC/AGC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123059500G>C Locations: - p.Thr534Ser (Ensembl:ENSMUST00000046073) - c.1601C>G (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3388791488 | 540 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000071.7:g.123059483C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123059483C>T Locations: - p.Val540Ile (Ensembl:ENSMUST00000046073) - c.1618G>A (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3388790932 | 572 | A>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000071.7:g.123026757C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123026757C>A Locations: - p.Ala572Ser (Ensembl:ENSMUST00000046073) - c.1714G>T (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3388790335 | 577 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.123026742C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123026742C>T Locations: - p.Ala577Thr (Ensembl:ENSMUST00000046073) - c.1729G>A (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3388790363 | 595 | T>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000071.7:g.123026687G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123026687G>A Locations: - p.Thr595Met (Ensembl:ENSMUST00000046073) - c.1784C>T (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3396139067 | 616 | K>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.123026624T>A Codon: AAG/ATG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123026624T>A Locations: - p.Lys616Met (Ensembl:ENSMUST00000046073) - c.1847A>T (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3395984918 | 618 | S>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.123026618C>A Codon: AGC/ATC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123026618C>A Locations: - p.Ser618Ile (Ensembl:ENSMUST00000046073) - c.1853G>T (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3396186952 | 618 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.123026619T>G Codon: AGC/CGC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123026619T>G Locations: - p.Ser618Arg (Ensembl:ENSMUST00000046073) - c.1852A>C (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3395759774 | 620 | I>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.123026613T>A Codon: ATC/TTC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123026613T>A Locations: - p.Ile620Phe (Ensembl:ENSMUST00000046073) - c.1858A>T (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3388795054 | 638 | C>S | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000071.7:g.123021493_123021494insTACCTCAACCATCACTC Codon: -/AGTGATGGTTGAGGTAG Consequence type: stop gained Cytogenetic band: 5q Genomic location: NC_000071.7:g.123021493_123021494insTACCTCAACCATCACTC Locations: - p.Cys638SerfsTer4 (Ensembl:ENSMUST00000046073) - c.1911_1912insAGTGATGGTTGAGGTAG (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs36600842 | 702 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000071.7:g.123020470C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123020470C>T Locations: - p.Gly702Arg (Ensembl:ENSMUST00000046073) - c.2104G>A (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3388779154 | 719 | S>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.123020241G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123020241G>A Locations: - p.Ser719Phe (Ensembl:ENSMUST00000046073) - c.2156C>T (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3388788682 | 737 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.16) Somatic: No Accession: NC_000071.7:g.123020188C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123020188C>T Locations: - p.Ala737Thr (Ensembl:ENSMUST00000046073) - c.2209G>A (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3388771797 | 750 | R>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.77) Somatic: No Accession: NC_000071.7:g.123020148C>T Codon: AGG/AAG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123020148C>T Locations: - p.Arg750Lys (Ensembl:ENSMUST00000046073) - c.2249G>A (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3388796790 | 759 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.18) Somatic: No Accession: NC_000071.7:g.123020122G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123020122G>A Locations: - p.Pro759Ser (Ensembl:ENSMUST00000046073) - c.2275C>T (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3388761271 | 765 | R>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.123020104G>T Codon: CGC/AGC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123020104G>T Locations: - p.Arg765Ser (Ensembl:ENSMUST00000046073) - c.2293C>A (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3388783966 | 786 | S>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000071.7:g.123020041T>A Codon: AGT/TGT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123020041T>A Locations: - p.Ser786Cys (Ensembl:ENSMUST00000046073) - c.2356A>T (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3388782332 | 795 | Q>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000071.7:g.123019801G>A Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: 5q Genomic location: NC_000071.7:g.123019801G>A Locations: - p.Gln795Ter (Ensembl:ENSMUST00000046073) - c.2383C>T (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3388779140 | 797 | S>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000071.7:g.123019794G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123019794G>A Locations: - p.Ser797Phe (Ensembl:ENSMUST00000046073) - c.2390C>T (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3388790987 | 828 | Q>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000071.7:g.123019702G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 5q Genomic location: NC_000071.7:g.123019702G>A Locations: - p.Gln828Ter (Ensembl:ENSMUST00000046073) - c.2482C>T (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3388791468 | 879 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000071.7:g.123018804C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123018804C>T Locations: - p.Glu879Lys (Ensembl:ENSMUST00000046073) - c.2635G>A (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3388784023 | 893 | S>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.123018762T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123018762T>C Locations: - p.Ser893Gly (Ensembl:ENSMUST00000046073) - c.2677A>G (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3412829892 | 900 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000071.7:g.123018741G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123018741G>A Locations: - p.Pro900Ser (Ensembl:ENSMUST00000046073) - c.2698C>T (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3388788603 | 902 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.38) Somatic: No Accession: NC_000071.7:g.123018735C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123018735C>T Locations: - p.Glu902Lys (Ensembl:ENSMUST00000046073) - c.2704G>A (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3388771829 | 905 | K>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000071.7:g.123018726T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123018726T>C Locations: - p.Lys905Glu (Ensembl:ENSMUST00000046073) - c.2713A>G (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3388788612 | 905 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.25) Somatic: No Accession: NC_000071.7:g.123018725T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123018725T>C Locations: - p.Lys905Arg (Ensembl:ENSMUST00000046073) - c.2714A>G (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3388788642 | 912 | R>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000071.7:g.123018704C>A Codon: CGG/CTG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123018704C>A Locations: - p.Arg912Leu (Ensembl:ENSMUST00000046073) - c.2735G>T (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3388771804 | 918 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.123018685C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123018685C>A Locations: - p.Glu918Asp (Ensembl:ENSMUST00000046073) - c.2754G>T (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3388795024 | 933 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000071.7:g.123018641T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123018641T>C Locations: - p.Lys933Arg (Ensembl:ENSMUST00000046073) - c.2798A>G (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3396115847 | 940 | H>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.123018620T>A Codon: CAC/CTC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123018620T>A Locations: - p.His940Leu (Ensembl:ENSMUST00000046073) - c.2819A>T (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3396186021 | 941 | E>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.123018617T>A Codon: GAG/GTG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123018617T>A Locations: - p.Glu941Val (Ensembl:ENSMUST00000046073) - c.2822A>T (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3388761260 | 1040 | R>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.123018320C>T Codon: AGG/AAG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123018320C>T Locations: - p.Arg1040Lys (Ensembl:ENSMUST00000046073) - c.3119G>A (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3388761216 | 1054 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.123018279C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123018279C>T Locations: - p.Asp1054Asn (Ensembl:ENSMUST00000046073) - c.3160G>A (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3388787603 | 1065 | W>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.123018245C>A Codon: TGG/TTG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123018245C>A Locations: - p.Trp1065Leu (Ensembl:ENSMUST00000046073) - c.3194G>T (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3388796832 | 1072 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.123017703C>A Codon: AAG/AAT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123017703C>A Locations: - p.Lys1072Asn (Ensembl:ENSMUST00000046073) - c.3216G>T (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3388779129 | 1090 | M>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.123017650A>T Codon: ATG/AAG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123017650A>T Locations: - p.Met1090Lys (Ensembl:ENSMUST00000046073) - c.3269T>A (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3388779159 | 1126 | D>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000071.7:g.123017461C>A Codon: GAC/TAC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123017461C>A Locations: - p.Asp1126Tyr (Ensembl:ENSMUST00000046073) - c.3376G>T (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs262618329 | 1247 | N>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000071.7:g.123016506T>A Codon: AAC/ATC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123016506T>A Locations: - p.Asn1247Ile (Ensembl:ENSMUST00000046073) - c.3740A>T (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3388790368 | 1252 | N>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.123009954T>A Codon: AAT/ATT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123009954T>A Locations: - p.Asn1252Ile (Ensembl:ENSMUST00000046073) - c.3755A>T (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3388788656 | 1295 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000071.7:g.123009826C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123009826C>T Locations: - p.Val1295Ile (Ensembl:ENSMUST00000046073) - c.3883G>A (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: | |||||||
rs3388785649 | 1304 | L>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.123009799G>T Codon: CTC/ATC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.123009799G>T Locations: - p.Leu1304Ile (Ensembl:ENSMUST00000046073) - c.3910C>A (Ensembl:ENSMUST00000046073) Source type: large scale study Cross-references: |