Genomic variant #0000109104

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.120612038_120612046del
Reference Copied from the Exome Variant Server
DB-ID NOTCH2_000310
Frequency 424/9806
Freq. EA 273/6726
Freq. AA 151/3080
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
NOTCH2 NM_024408.3 ?/? c.-26_-18del r.(=) p.(=)