Genomic variant #0001995346

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.153223426G>A
Reference Copied from the Exome Variant Server
DB-ID HCFC1_000137
Frequency 5/10000
Freq. EA 0/6526
Freq. AA 5/3474
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
HCFC1 NM_005334.2 ?/? c.2028+50C>T r.(=) p.(=)