Variant #0000003058 (NC_000019.10:g.15192389G>A, NM_000435.2:c.328C>T (NOTCH3))

Individual ID 00000784
Chromosome 19
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.15192389G>A
Published as -
Reference DOI:Hong Chuan Loh et al.(2021):10.36877/pddbs.a0000200
DB-ID NOTCH3_000002 See all 2 reported entries
dbSNP ID rs775836288
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Date created 2021-07-14 10:24:10 +08:00 (CST)
Date last edited 2021-08-01 13:25:48 +08:00 (CST)
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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 +/. 3 c.328C>T R110C r.(?) p.(Arg110Cys) - Pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000878 DNA PCR;SEQ NOTCH3 1 Nur Aisyah Athirah