Genomic variant #0001962162

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.44132063T>C
Reference Copied from the Exome Variant Server
DB-ID EFHC2_000074
Frequency 1/9173
Freq. EA 0/6198
Freq. AA 1/2975
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EFHC2 NM_025184.3 ?/? c.251A>G r.(?) p.(Tyr84Cys)