Genomic variant #0001962107

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.44037776C>T
Reference Copied from the Exome Variant Server
DB-ID EFHC2_000019
Frequency 5/9524
Freq. EA 0/6394
Freq. AA 5/3130
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EFHC2 NM_025184.3 ?/? c.1786G>A r.(?) p.(Ala596Thr)