Genomic variant #0000610389

Chromosome 5
DNA change (genomic) (Relative to hg19 / GRCh37) g.176637825G>A
Reference Copied from the Exome Variant Server
DB-ID NSD1_000082
Frequency 1/13006
Freq. EA 1/8600
Freq. AA 0/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
NSD1 NM_172349.2 ?/? c.1618G>A r.(?) p.(Glu540Lys)