Genomic variant #0000109074

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.120539405C>T
Reference Copied from the Exome Variant Server
DB-ID NOTCH2_000284
Frequency 1/5730
Freq. EA 1/3978
Freq. AA 0/1752
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+215G>A r.(=) p.(=)