Genomic variant #0001955372

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.18192353C>T
Reference Copied from the Exome Variant Server
DB-ID BEND2_000026
Frequency 2/10563
Freq. EA 2/6728
Freq. AA 0/3835
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
BEND2 NM_153346.4 ?/? c.1778G>A r.(?) p.(Arg593His)