Full data view for 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.
Legend  

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

GVS function     

Allele     

DNA change (genomic) (hg19)     

DB-ID     

dbSNP ID     

PhyloP conservation     

Template     

Technique     

Tissue     

Disease     

Reference     

Gender     

Remarks     

Panel size     

Owner     
?/? c.-1185C>T r.(=) p.(=) utr-5 Unknown g.152989537C>T chrX_010930 rs190031709 -0.111 DNA SEQ-NG Blood Healthy/Control - F - 1 Ivo F.A.C. Fokkema
?/? c.-892A>C r.(=) p.(=) utr-5 Unknown g.152989830A>C chrX_010931 rs5987137 1.201 DNA SEQ-NG Blood Healthy/Control - F - 1 Ivo F.A.C. Fokkema
?/? c.1823G>A r.(?) p.(Gly608Asp) missense Unknown g.153008483G>A chrX_010932 rs78993751 5.542 DNA SEQ-NG Blood Healthy/Control - F - 1 Ivo F.A.C. Fokkema
?/? c.*8G>C r.(=) p.(=) utr-3 Unknown g.153009197G>C chrX_010933 rs2229539 -4.182 DNA SEQ-NG Blood Healthy/Control - F - 1 Ivo F.A.C. Fokkema
?/? c.*530G>A r.(=) p.(=) utr-3 Unknown g.153009719G>A chrX_010934 rs67211405 -2.401 DNA SEQ-NG Blood Healthy/Control - F - 1 Ivo F.A.C. Fokkema
?/? c.*870G>T r.(=) p.(=) utr-3 Unknown g.153010059G>T chrX_010935 rs72616452 2.479 DNA SEQ-NG Blood Healthy/Control - F - 1 Ivo F.A.C. Fokkema
?/? c.*1078G>A r.(=) p.(=) utr-3 Unknown g.153010267G>A chrX_010936 rs6643784 -0.901 DNA SEQ-NG Blood Healthy/Control - F - 1 Ivo F.A.C. Fokkema
?/? c.*1400T>C r.(=) p.(=) utr-3 Unknown g.153010589T>C chrX_010937 - 0.293 DNA SEQ-NG Blood Healthy/Control - F - 1 Ivo F.A.C. Fokkema
?/? c.*1420T>C r.(=) p.(=) utr-3 Unknown g.153010609T>C chrX_010938 rs5945159 -0.89 DNA SEQ-NG Blood Healthy/Control - F - 1 Ivo F.A.C. Fokkema
?/? c.*1501G>T r.(=) p.(=) utr-3 Unknown g.153010690G>T chrX_010939 rs11798373 0.716 DNA SEQ-NG Blood Healthy/Control - F - 1 Ivo F.A.C. Fokkema
?/? c.*4062C>T r.(=) p.(=) utr-3 Unknown g.153013251C>T chrX_010940 rs66868110 -1.969 DNA SEQ-NG Blood Healthy/Control - F - 1 Ivo F.A.C. Fokkema
Legend