Genomic variant #0000109081

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.120539676T>C
Reference Copied from the Exome Variant Server
DB-ID NOTCH2_000291
Frequency 2/13004
Freq. EA 2/8598
Freq. AA 0/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
NOTCH2 NM_024408.3 ?/? c.695A>G r.(?) p.(Asn232Ser)