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NM_000520.5:c.749G>T
Home
NM_000520.5:c.749G>T
HGVS Expressions
NG_009017.2:g.30606G>T
NM_000520.5:c.749G>T
NP_000511.2:p.Gly250Val
NC_000015.10:g.72350574C>A
Associated Genes
Hexosaminidase A
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Clinvar Clinical Significance
Uncertain Significance
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
121907959
Clinvar
557210
Epidemiology in the Arab World
View Map
All Countries
Iraq
Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
272800.5.1
Lebanon
2
Pathogenic
Tay-Sachs Disease
Trop et al. 1992
Sibling of 272800.5.2
272800.5.2
Lebanon
2
Pathogenic
Tay-Sachs Disease
Trop et al. 1992
Sibling of 272800.5.1
272800.5.3
Lebanon
1
Pathogenic
Trop et al. 1992
Mother of 272800.5.1 and 272800.5.2
272800.5.4
Lebanon
1
Pathogenic
Trop et al. 1992
Father of 272800.5.1 and 272800.5.2
272800.G.2
Iraq
24
Pathogenic
Karpati et al. 2004
24 Iraqi Jews
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Contributors
Pratibha Nair: 16.07.2018
Edit History
Pratibha Nair: 12.10.2022
Pratibha Nair: 25.12.2018
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Algeria
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Country not specified
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Arab Countries with reported incidence
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Non-Arab Countries
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