Genomic variant #0000472127

Individual ID 00229470
Chromosome 1
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.120458723G>A
DNA change (hg38) g.119916100G>A
Published as -
ISCN -
DB-ID NOTCH2_000012 See all 2 reported entries
Variant remarks -
Reference PubMed: Simpson 2011
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner -
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NOTCH2 NM_024408.3 +/? 34 c.6622C>T r.(?) p.(Gln2208*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000230565 DNA SEQ - - NOTCH2 1 -