Genomic variant #0000109103

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.120548173C>T
Reference Copied from the Exome Variant Server
DB-ID NOTCH2_000308
Frequency 2/12960
Freq. EA 1/8556
Freq. AA 1/4404
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
NOTCH2 NM_024408.3 ?/? c.194G>A r.(?) p.(Arg65Gln)