Variant #0000081730 (NC_000019.9:g.15303221G>A, NOTCH3(NM_000435.2):c.307C>T)

Individual ID 00052341
Chromosome 19
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.15303221G>A
DNA change (hg38) g.15192410G>A
Published as -
ISCN -
DB-ID NOTCH3_000204
Variant remarks variant affects protein function but is not associated with phenotype CADASIL
Reference PubMed: Rutten 2013
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Martine van Belzen
Database submission license No license selected
Created by Elles Boon
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NOTCH3 NM_000435.2 -?/-? 3 c.307C>T r.307c>u p.Arg103*



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000052289 DNA;RNA RT-PCR;SEQ - - NOTCH3 1 Martine van Belzen