Genomic variant #0001995343

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.153223346G>C
Reference Copied from the Exome Variant Server
DB-ID HCFC1_000222
Frequency 2/9884
Freq. EA 0/6490
Freq. AA 2/3394
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
HCFC1 NM_005334.2 ?/? c.2029-9C>G r.(=) p.(=)