Genomic variant #0001962114

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.44091809G>A
Reference Copied from the Exome Variant Server
DB-ID EFHC2_000026
Frequency 1/9991
Freq. EA 1/6538
Freq. AA 0/3453
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EFHC2 NM_025184.3 ?/? c.1538C>T r.(?) p.(Thr513Met)