Genomic variant #0001962164

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.44171826G>C
Reference Copied from the Exome Variant Server
DB-ID EFHC2_000076
Frequency 3/9709
Freq. EA 0/6440
Freq. AA 3/3269
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EFHC2 NM_025184.3 ?/? c.219C>G r.(=) p.(=)