Genomic variant #0000109064

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.120512120C>T
Reference Copied from the Exome Variant Server
DB-ID NOTCH2_000274
Frequency 13/13006
Freq. EA 11/8600
Freq. AA 2/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
NOTCH2 NM_024408.3 ?/? c.1108+14G>A r.(=) p.(=)