Genomic variant #0001962126

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.44094637C>T
Reference Copied from the Exome Variant Server
DB-ID EFHC2_000038
Frequency 1/9507
Freq. EA 1/6391
Freq. AA 0/3116
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EFHC2 NM_025184.3 ?/? c.1337G>A r.(?) p.(Cys446Tyr)