Genomic variant #0001995305

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.153220876C>T
Reference Copied from the Exome Variant Server
DB-ID HCFC1_000124
Frequency 2/10485
Freq. EA 1/6684
Freq. AA 1/3801
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
HCFC1 NM_005334.2 ?/? c.2974G>A r.(?) p.(Ala992Thr)