Genomic variant #0001962119

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.44091891G>A
Reference Copied from the Exome Variant Server
DB-ID EFHC2_000031
Frequency 1/9614
Freq. EA 1/6419
Freq. AA 0/3195
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EFHC2 NM_025184.3 ?/? c.1456C>T r.(?) p.(Arg486Cys)