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NM_000521.3:c.1627G>A
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NM_000521.3:c.1627G>A
HGVS Expressions
NG_009770.2:g.86109G>A
NM_000521.3:c.1627G>A
NP_000512.1:p.Ala543Thr
NC_000005.10:g.74721131G>A
Associated Genes
Hexosaminidase B
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Clinvar Clinical Significance
Benign, Likely Benign
CTGA Clinical Significance
Likely Benign
Variant Type
Substitution
dbSNP
121907984
Clinvar
3881
Epidemiology in the Arab World
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Palestine
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
272800.1.1
Palestine
2
Likely Benign
Tay-Sachs Disease
Narkis et al. 1997
272800.1.2
Palestine
2
Likely Benign
Tay-Sachs Disease
Narkis et al. 1997
First degree cousin of 272800.1.1
272800.1.3
Palestine
1
Likely Benign
Tay-Sachs Disease
Narkis et al. 1997
Maternal uncle of 272800.1.1
272800.1.4
Palestine
1
Likely Benign
Tay-Sachs Disease
Narkis et al. 1997
Father of 272800.1.1
272800.1.5
Palestine
1
Likely Benign
Tay-Sachs Disease
Narkis et al. 1997
Mother of 272800.1.1
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Contributors
Pratibha Nair: 20.05.2018
Edit History
Pratibha Nair: 12.10.2022
Pratibha Nair: 05.07.2020
Pratibha Nair: 24.12.2018
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Algeria
Bahrain
Comoros
Country not specified
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Morocco
Oman
Palestine
Qatar
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Arab Countries with reported incidence
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