Genomic variant #0001962102

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.44037679A>C
Reference Copied from the Exome Variant Server
DB-ID EFHC2_000014
Frequency 1/9511
Freq. EA 1/6387
Freq. AA 0/3124
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EFHC2 NM_025184.3 ?/? c.1883T>G r.(?) p.(Phe628Cys)