Genomic variant #0001993759

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.152991478C>G
Reference Copied from the Exome Variant Server
DB-ID ABCD1_000062
Frequency 11/10541
Freq. EA 10/6718
Freq. AA 1/3823
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ABCD1 NM_000033.3 ?/? c.757C>G r.(?) p.(Leu253Val)