Genomic variant #0000109095

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.120547909C>A
Reference Copied from the Exome Variant Server
DB-ID NOTCH2_000311
Frequency 47/13006
Freq. EA 43/8600
Freq. AA 4/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
NOTCH2 NM_024408.3 ?/? c.415+43G>T r.(=) p.(=)