Genomic variant #0000109021

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.120497893_120497896del
Reference Copied from the Exome Variant Server
DB-ID NOTCH2_000232
Frequency 1/12520
Freq. EA 1/8254
Freq. AA 0/4266
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
NOTCH2 NM_024408.3 ?/? c.2027-41_2027-38del r.(=) p.(=)