Genomic variant #0001993749

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.152991113G>T
Reference Copied from the Exome Variant Server
DB-ID ABCD1_000052
Frequency 1/10534
Freq. EA 1/6710
Freq. AA 0/3824
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ABCD1 NM_000033.3 ?/? c.392G>T r.(?) p.(Gly131Val)