Genomic variant #0001962155

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.44120446A>G
Reference Copied from the Exome Variant Server
DB-ID EFHC2_000067
Frequency 1/9506
Freq. EA 1/6384
Freq. AA 0/3122
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EFHC2 NM_025184.3 ?/? c.481T>C r.(?) p.(Tyr161His)