Genomic variant #0001993752

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.152991193C>G
Reference Copied from the Exome Variant Server
DB-ID ABCD1_000055
Frequency 1/10561
Freq. EA 0/6728
Freq. AA 1/3833
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ABCD1 NM_000033.3 ?/? c.472C>G r.(?) p.(Leu158Val)