Variant #0000000787 (NC_000019.10:g.15192086A>C, NM_000435.2:c.553T>G (NOTCH3))

Individual ID 00000158
Chromosome 19
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.15192086A>C
Published as C185G
Reference -
DB-ID NOTCH3_000003
dbSNP ID rs1566975069
Frequency 1
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
Date created 2020-11-18 10:55:15 +08:00 (CST)
Date last edited 2021-09-12 15:02:03 +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 +/. 4 c.553T>G - r.(?) p.(Cys185Gly) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000173 DNA PCR;SEQ NOTCH3 1 Nuur Athirah Binti Mohd Daud