Genomic variant #0001962128

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.44094685G>T
Reference Copied from the Exome Variant Server
DB-ID EFHC2_000040
Frequency 727/9469
Freq. EA 531/6380
Freq. AA 196/3089
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EFHC2 NM_025184.3 ?/? c.1289C>A r.(?) p.(Ser430Tyr)