Individual #00000156

Reference Tsun Haw Toh et al. (2019)
Gender F
Geographic origin Malaysia
Ethnic origin Chinese
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 10:22:10 +08:00 (CST)
Date last edited 2020-12-14 11:39:37 +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     
0000000069 - Familial, autosomal dominant Nuur Athirah Binti Mohd Daud



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000171 DNA PCR;SEQ NOTCH3 1 Nuur Athirah Binti Mohd Daud



Variants

1 entry on 1 page. Showing entry 1.
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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.15187315G>A R544C dbSNP, ClinVar NOTCH3_000001 rs201118034 1 - Nuur Athirah Binti Mohd Daud NOTCH3 11 NM_000435.2:c.1630C>T - r.(?) p.(Arg544Cys) - ClinVar
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