Genomic variant #0000109094

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.120539948C>T
Reference Copied from the Exome Variant Server
DB-ID NOTCH2_000309
Frequency 11/12998
Freq. EA 2/8596
Freq. AA 9/4402
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
NOTCH2 NM_024408.3 ?/? c.423G>A r.(=) p.(=)