Genomic variant #0000109082

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.120539691G>T
Reference Copied from the Exome Variant Server
DB-ID NOTCH2_000292
Frequency 1/13006
Freq. EA 0/8600
Freq. AA 1/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
NOTCH2 NM_024408.3 ?/? c.680C>A r.(?) p.(Pro227His)