Individual #00000158

Reference Tsun Haw Toh et al. (2019)
Gender M
Geographic origin Malaysia
Ethnic origin Indian
Population -
Remarks -
Microattribution -
Panel size 1
Diseases CADASIL
Owner name 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 10:41:42 +08:00 (CST)
Date last edited 2020-12-14 11:44:36 +08:00 (CST)


Phenotypes

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Inheritance     

Owner     
0000000071 - Familial, autosomal dominant Nuur Athirah Binti Mohd Daud



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

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



Variants

1 entry on 1 page. Showing entry 1.
Legend   How to query  

Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Owner     

Gene     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
19 Unknown +/. g.15192086A>C C185G - NOTCH3_000003 rs1566975069 1 - Nuur Athirah Binti Mohd Daud NOTCH3 4 NM_000435.2:c.553T>G - r.(?) p.(Cys185Gly) - -
Legend   How to query