Genomic variant #0000109107

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.120612042_120612043insTCCGCCGCC
Reference Copied from the Exome Variant Server
DB-ID NOTCH2_000316
Frequency 171/9136
Freq. EA 141/6364
Freq. AA 30/2772
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
NOTCH2 NM_024408.3 ?/? c.-23_-22insGGCGGCGGA r.(=) p.(=)