Genomic variant #0001995391

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.153228916C>T
Reference Copied from the Exome Variant Server
DB-ID HCFC1_000106
Frequency 1/9996
Freq. EA 0/6522
Freq. AA 1/3474
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
HCFC1 NM_005334.2 ?/? c.504-32G>A r.(=) p.(=)