Genomic variant #0001995384

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.153227769C>T
Reference Copied from the Exome Variant Server
DB-ID HCFC1_000099
Frequency 1/10243
Freq. EA 0/6612
Freq. AA 1/3631
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
HCFC1 NM_005334.2 ?/? c.713-12G>A r.(=) p.(=)