Genomic variant #0000109076

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.120539597T>C
Reference Copied from the Exome Variant Server
DB-ID NOTCH2_000286
Frequency 6/11666
Freq. EA 0/7752
Freq. AA 6/3914
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
NOTCH2 NM_024408.3 ?/? c.751+23A>G r.(=) p.(=)