Variant #0000081579 (NC_000019.9:g.15302929C>T, NOTCH3(NM_000435.2):c.521G>A)

Individual ID 00052190
Chromosome 19
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.15302929C>T
DNA change (hg38) g.15192118C>T
Published as -
ISCN -
DB-ID NOTCH3_000033
Variant remarks -
Reference PubMed: Dichgans 1999
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Global Variome, with Curator vacancy
Database submission license No license selected
Created by Elles Boon
Date created 2007-01-05 16:45:48 +01:00 (CET)
Date last edited 2016-11-16 21:19:08 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NOTCH3 NM_000435.2 +/+ 4 c.521G>A r.(?) p.(Cys174Tyr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000052138 DNA SEQ - - NOTCH3 1 Global Variome, with Curator vacancy