Genomic variant #0000109089

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.120539879G>T
Reference Copied from the Exome Variant Server
DB-ID NOTCH2_000299
Frequency 3/12998
Freq. EA 0/8594
Freq. AA 3/4404
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
NOTCH2 NM_024408.3 ?/? c.492C>A r.(?) p.(Asn164Lys)