Genomic variant #0000109098

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.120548029C>G
Reference Copied from the Exome Variant Server
DB-ID NOTCH2_000317
Frequency 3/13006
Freq. EA 0/8600
Freq. AA 3/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
NOTCH2 NM_024408.3 ?/? c.338G>C r.(?) p.(Arg113Pro)