Genomic variant #0000610363

Chromosome 5
DNA change (genomic) (Relative to hg19 / GRCh37) g.176637129A>T
Reference Copied from the Exome Variant Server
DB-ID NSD1_000056
Frequency 1/13000
Freq. EA 0/8596
Freq. AA 1/4404
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
NSD1 NM_172349.2 ?/? c.922A>T r.(?) p.(Thr308Ser)