Individual #00000230

Reference Ili Syazwana Abdullah et al. 2019)
Gender F
Geographic origin Malaysia
Ethnic origin Malay
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 16:28:51 +08:00 (CST)
Date last edited 2020-12-14 17:32:54 +08:00 (CST)


Phenotypes

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

AscendingPhenotype ID     

Phenotype details     

Inheritance     

Owner     
0000000115 - Familial, autosomal recessive Nuur Athirah Binti Mohd Daud



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000245 DNA PCRdig;TaqMan AGL 2 Nuur Athirah Binti Mohd Daud



Variants

2 entries on 1 page. Showing entries 1 - 2.
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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.99876598G>T - Ili Syazwana Abdullah et al. (2019)dbSNP AGL_000006 rs751952198 1/2 - Nuur Athirah Binti Mohd Daud AGL 12i NM_000642.2:c.1423+1G>T - r.spl? p.? - ClinVar
1 Unknown +/. g.99884704G>A - Ili Syazwana Abdullah et al. (2019)dbSNP AGL_000001 rs201201443 1/2 - Nuur Athirah Binti Mohd Daud AGL 21 NM_000642.2:c.2681+1G>A - r.spl? p.? - ClinVar
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