Genomic variant #0001962134

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.44101433C>T
Reference Copied from the Exome Variant Server
DB-ID EFHC2_000046
Frequency 1/9586
Freq. EA 0/6398
Freq. AA 1/3188
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EFHC2 NM_025184.3 ?/? c.1214G>A r.(?) p.(Arg405His)