Genomic variant #0000610370

Chromosome 5
DNA change (genomic) (Relative to hg19 / GRCh37) g.176637240G>T
Reference Copied from the Exome Variant Server
DB-ID NSD1_000063
Frequency 1292/13006
Freq. EA 982/8600
Freq. AA 310/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
NSD1 NM_172349.2 ?/? c.1033G>T r.(?) p.(Val345Leu)