Individual #00000233

Reference Ili Syazwana Abdullah et al. (2019)
Gender F
Geographic origin Malaysia
Ethnic origin Bajau
Population -
Remarks -
Microattribution -
Panel size 1
Diseases GSD III
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 2020-12-07 16:55:44 +08:00 (CST)
Date last edited 2020-12-14 17:34:33 +08:00 (CST)


Phenotypes

Glycogen storage disease type III (GSD III)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Inheritance     

Owner     
0000000118 - Familial, autosomal recessive Nuur Athirah Binti Mohd Daud



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000248 DNA PCRdig;TaqMan AGL 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     
1 Unknown -?/. g.99880679C>T - Ili Syazwana Abdullah et al. (2019)dbSNP AGL_000009 rs150866831 2 - Nuur Athirah Binti Mohd Daud AGL 15 NM_000642.2:c.1783C>T - r.(?) p.(Arg595*) - ClinVar
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