Individual #00000229

Reference Ili Syazwana Abdullah et al .(2019)
Gender M
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 16:05:30 +08:00 (CST)
Date last edited 2020-12-14 17:32:27 +08:00 (CST)


Phenotypes

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

AscendingPhenotype ID     

Phenotype details     

Inheritance     

Owner     
0000000114 - Familial, autosomal recessive Nuur Athirah Binti Mohd Daud



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000244 DNA PCRdig;TaqMan AGL 5 Nuur Athirah Binti Mohd Daud



Variants

5 entries on 1 page. Showing entries 1 - 5.
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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.99861519C>T - Ili Syazwana Abdullah et al. (2019) AGL_000005 rs886048021 2/14 - Nuur Athirah Binti Mohd Daud AGL 4 NM_000642.2:c.99C>T - r.(=) p.(=) - -
1 Unknown +/. g.99884704G>A - Ili Syazwana Abdullah et al. (2019)dbSNP AGL_000001 rs201201443 6/14 - Nuur Athirah Binti Mohd Daud AGL 21 NM_000642.2:c.2681+1G>A - r.spl? p.? - ClinVar
1 Unknown +/. g.99891321_99891322delAA - Ili Syazwana Abdullah et al. (2019) AGL_000002 - 1/14 - Nuur Athirah Binti Mohd Daud AGL 23 NM_000642.2:c.2914_2915delAA - r.(?) p.(Asn972Profs*11) - -
1 Unknown +/. g.99910825_99910826delAG - Ili Syazwana Abdullah et al. (2019) AGL_000004 - 3/14 - Nuur Athirah Binti Mohd Daud AGL 29 NM_000642.2:c.3814_3815delAG - r.(?) p.(Gly1273Asnfs*18) - -
1 Unknown +/. g.99921542G>A - Ili Syazwana Abdullah et al. (2019) AGL_000003 rs1555397212 2/14 - Nuur Athirah Binti Mohd Daud AGL 35 NM_000642.2:c.4490G>A - r.(?) p.(Trp1497*) - -
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