Genomic variant #0001962159

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.44120569T>C
Reference Copied from the Exome Variant Server
DB-ID EFHC2_000071
Frequency 3/9604
Freq. EA 2/6404
Freq. AA 1/3200
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EFHC2 NM_025184.3 ?/? c.383-25A>G r.(=) p.(=)