Genomic variant #0001962165

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.44171845T>A
Reference Copied from the Exome Variant Server
DB-ID EFHC2_000077
Frequency 11/9707
Freq. EA 1/6442
Freq. AA 10/3265
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EFHC2 NM_025184.3 ?/? c.200A>T r.(?) p.(Asp67Val)