Variant #0000000789 (NC_000019.10:g.15188237G>A, NOTCH3(NM_000435.2):c.1490C>T)

Individual ID 00000159
Chromosome 19
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.15188237G>A
Published as S497L
Reference Kheng-Seang Lim et al. (2015), dbSNP, ClinVar
DB-ID NOTCH3_000005
dbSNP ID rs114207045
Frequency 6
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
NOTCH3 NM_000435.2 ./. 9 c.1490C>T - r.(?) p.(Ser497Leu) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000174 DNA PCR;SEQ NOTCH3 2 Nuur Athirah Binti Mohd Daud