Genomic variant #0000610392

Chromosome 5
DNA change (genomic) (Relative to hg19 / GRCh37) g.176637850C>T
Reference Copied from the Exome Variant Server
DB-ID NSD1_000083
Frequency 12/13006
Freq. EA 0/8600
Freq. AA 12/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
NSD1 NM_172349.2 ?/? c.1643C>T r.(?) p.(Ser548Phe)