Genomic variant #0001962127

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.44094682T>C
Reference Copied from the Exome Variant Server
DB-ID EFHC2_000039
Frequency 1/9477
Freq. EA 0/6386
Freq. AA 1/3091
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EFHC2 NM_025184.3 ?/? c.1292A>G r.(?) p.(Lys431Arg)