Genomic variant #0001995354

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.153223970G>A
Reference Copied from the Exome Variant Server
DB-ID HCFC1_000145
Frequency 1/10245
Freq. EA 1/6597
Freq. AA 0/3648
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
HCFC1 NM_005334.2 ?/? c.1803+50C>T r.(=) p.(=)