Genomic variant #0001962173

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.44202890_44202891insC
Reference Copied from the Exome Variant Server
DB-ID EFHC2_000085
Frequency 8760/8814
Freq. EA 5831/5868
Freq. AA 2929/2946
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EFHC2 NM_025184.3 ?/? c.-57_-56insG r.(=) p.(=)