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NM_000152.3:c.340_341insT
Home
NM_000152.3:c.340_341insT
HGVS Expressions
NG_009822.1:g.8371_8372insT
NM_000152.3:c.340_341insT
NP_000143.2:p.Lys114IlefsTer32
NC_000017.11:g.80104926_80104927insT
Associated Genes
Glucosidase, Alpha, Acid
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Clinvar Clinical Significance
Likely Pathogenic
CTGA Clinical Significance
Likely Pathogenic, Pathogenic
Variant Type
Insertion
Clinvar
1068640
Epidemiology in the Arab World
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All Countries
Palestine
United Arab Emirates
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
232300.3
United Arab Emirates
2
Pathogenic
Glycogen Storage Disease II
Hamdan et al. 2010
Pompe disease; older sibling with Pompe ...
232300.6
Palestine
2
Likely Pathogenic
Glycogen Storage Disease II
Hermans et al. 2004
232300.8
Palestine
2
Pathogenic
Glycogen Storage Disease II
Ali et al. 2011
232300.G.1
Palestine
2
Pathogenic
Glycogen Storage Disease II
Al-Jasmi et al. 2013
2 palestinian patients
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Contributors
Sami Bizzari: 04.01.2021
Edit History
Pratibha Nair: 12.01.2023
Sayeeda Hana: 26.09.2021
Sayeeda Hana: 20.09.2021
Sayeeda Hana: 08.06.2021
Sami Bizzari: 04.01.2021
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