Variant #0000081540 (NC_000019.9:g.15308348G>A, NOTCH3(NM_000435.2):c.160C>T)

Individual ID 00052151
Chromosome 19
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.15308348G>A
DNA change (hg38) g.15197537G>A
Published as -
ISCN -
DB-ID NOTCH3_000048
Variant remarks -
Reference PubMed: Escary 2000
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NOTCH3 NM_000435.2 ?/? 2 c.160C>T r.(?) p.(Arg54Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000052099 DNA DHPLC - - NOTCH3 1 Global Variome, with Curator vacancy