Genomic variant #0001993744

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.152990821C>T
Reference Copied from the Exome Variant Server
DB-ID ABCD1_000047
Frequency 1/9116
Freq. EA 1/5808
Freq. AA 0/3308
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ABCD1 NM_000033.3 ?/? c.100C>T r.(?) p.(Pro34Ser)