Genomic variant #0001962090

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.44008011A>C
Reference Copied from the Exome Variant Server
DB-ID EFHC2_000002
Frequency 153/9427
Freq. EA 0/6342
Freq. AA 153/3085
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EFHC2 NM_025184.3 ?/? c.*30T>G r.(=) p.(=)