Genomic variant #0001962158

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.44120548T>C
Reference Copied from the Exome Variant Server
DB-ID EFHC2_000070
Frequency 1/9565
Freq. EA 1/6405
Freq. AA 0/3160
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EFHC2 NM_025184.3 ?/? c.383-4A>G r.spl? p.?