Genomic variant #0001962110

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.44088950C>T
Reference Copied from the Exome Variant Server
DB-ID EFHC2_000022
Frequency 7/9575
Freq. EA 6/6405
Freq. AA 1/3170
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EFHC2 NM_025184.3 ?/? c.1696G>A r.(?) p.(Val566Ile)