Genomic variant #0001962150

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.44109667G>A
Reference Copied from the Exome Variant Server
DB-ID EFHC2_000062
Frequency 2/9715
Freq. EA 2/6439
Freq. AA 0/3276
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EFHC2 NM_025184.3 ?/? c.631C>T r.(?) p.(Arg211Cys)