Genomic variant #0000109093

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.120539942T>C
Reference Copied from the Exome Variant Server
DB-ID NOTCH2_000307
Frequency 1/12998
Freq. EA 1/8596
Freq. AA 0/4402
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
NOTCH2 NM_024408.3 ?/? c.429A>G r.(=) p.(=)