Genomic variant #0000610362

Chromosome 5
DNA change (genomic) (Relative to hg19 / GRCh37) g.176637116C>T
Reference Copied from the Exome Variant Server
DB-ID NSD1_000055
Frequency 1/13000
Freq. EA 1/8598
Freq. AA 0/4402
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
NSD1 NM_172349.2 ?/? c.909C>T r.(=) p.(=)