Variant #0000081663 (NC_000019.9:g.15303206A>G, NOTCH3(NM_000435.2):c.322T>C)

Individual ID 00052274
Chromosome 19
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.15303206A>G
DNA change (hg38) g.15192395A>G
Published as 322C>T
ISCN -
DB-ID NOTCH3_000138
Variant remarks -
Reference PubMed: Wang ZX 2004
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 Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Elles Boon
Date created 2008-07-16 14:05:01 +02:00 (CEST)
Date last edited 2016-11-16 21:19:08 +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.322T>C r.(?) p.(Cys108Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000052222 DNA SEQ - - NOTCH3 1 Global Variome, with Curator vacancy