Genomic variant #0001962157

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.44120523C>T
Reference Copied from the Exome Variant Server
DB-ID EFHC2_000069
Frequency 5/9530
Freq. EA 5/6398
Freq. AA 0/3132
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EFHC2 NM_025184.3 ?/? c.404G>A r.(?) p.(Arg135Gln)