Genomic variant #0001962146

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.44109483C>T
Reference Copied from the Exome Variant Server
DB-ID EFHC2_000058
Frequency 4/9749
Freq. EA 3/6477
Freq. AA 1/3272
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EFHC2 NM_025184.3 ?/? c.815G>A r.(?) p.(Arg272Gln)