Genomic variant #0001962115

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.44091828C>G
Reference Copied from the Exome Variant Server
DB-ID EFHC2_000027
Frequency 16/9949
Freq. EA 9/6526
Freq. AA 7/3423
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EFHC2 NM_025184.3 ?/? c.1519G>C r.(?) p.(Glu507Gln)