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
Date created 2013-04-15 16:05:42 +02:00 (CEST)
Date last edited 2016-11-29 22:38:36 +01:00 (CET)
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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