Genomic variant #0000109077

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.120539654A>G
Reference Copied from the Exome Variant Server
DB-ID NOTCH2_000287
Frequency 1/13004
Freq. EA 0/8600
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.717T>C r.(=) p.(=)