Unique variants in gene ABCD1

Information The variants shown are described using the NM_000033.3 transcript reference sequence.

11 entries on 1 page. Showing entries 1 - 11.
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Effect     

Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

GVS function     

DNA change (genomic) (hg19)     

DB-ID     

dbSNP ID     

PhyloP conservation     

Owner     
?/? 1 c.-1185C>T r.(=) p.(=) utr-5 g.152989537C>T chrX_010930 rs190031709 -0.11100000143051147 Ivo F.A.C. Fokkema
?/? 1 c.-892A>C r.(=) p.(=) utr-5 g.152989830A>C chrX_010931 rs5987137 1.2009999752044678 Ivo F.A.C. Fokkema
?/? 1 c.1823G>A r.(?) p.(Gly608Asp) missense g.153008483G>A chrX_010932 rs78993751 5.541999816894531 Ivo F.A.C. Fokkema
?/? 1 c.*8G>C r.(=) p.(=) utr-3 g.153009197G>C chrX_010933 rs2229539 -4.182000160217285 Ivo F.A.C. Fokkema
?/? 1 c.*530G>A r.(=) p.(=) utr-3 g.153009719G>A chrX_010934 rs67211405 -2.4010000228881836 Ivo F.A.C. Fokkema
?/? 1 c.*870G>T r.(=) p.(=) utr-3 g.153010059G>T chrX_010935 rs72616452 2.4790000915527344 Ivo F.A.C. Fokkema
?/? 1 c.*1078G>A r.(=) p.(=) utr-3 g.153010267G>A chrX_010936 rs6643784 -0.9010000228881836 Ivo F.A.C. Fokkema
?/? 1 c.*1400T>C r.(=) p.(=) utr-3 g.153010589T>C chrX_010937 - 0.2930000126361847 Ivo F.A.C. Fokkema
?/? 1 c.*1420T>C r.(=) p.(=) utr-3 g.153010609T>C chrX_010938 rs5945159 -0.8899999856948853 Ivo F.A.C. Fokkema
?/? 1 c.*1501G>T r.(=) p.(=) utr-3 g.153010690G>T chrX_010939 rs11798373 0.7160000205039978 Ivo F.A.C. Fokkema
?/? 1 c.*4062C>T r.(=) p.(=) utr-3 g.153013251C>T chrX_010940 rs66868110 -1.968999981880188 Ivo F.A.C. Fokkema
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