Genomic variant #0001962140

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.44108047C>T
Reference Copied from the Exome Variant Server
DB-ID EFHC2_000052
Frequency 1/9565
Freq. EA 1/6396
Freq. AA 0/3169
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EFHC2 NM_025184.3 ?/? c.972+2G>A r.spl? p.?