Genomic variant #0001962116

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.44091831C>T
Reference Copied from the Exome Variant Server
DB-ID EFHC2_000028
Frequency 32/9937
Freq. EA 30/6520
Freq. AA 2/3417
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EFHC2 NM_025184.3 ?/? c.1516G>A r.(?) p.(Glu506Lys)