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NM_000520.5:c.1277_1278insTATC
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NM_000520.5:c.1277_1278insTATC
HGVS Expressions
NG_009017.2:g.34597_34600dup
NM_000520.5:c.1277_1278insTATC
NP_000511.2:p.Tyr427IlefsTer5
NC_000015.10:g.72346580_72346583dup
Associated Genes
Hexosaminidase A
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Insertion
dbSNP
387906309
Clinvar
3889
Epidemiology in the Arab World
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All Countries
Iraq
Morocco
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
272800.17
Morocco
1
Kaufman et al. 1997
Moroccan Jewish carrier
272800.G.3
Iraq
3
Pathogenic
Karpati et al. 2004
3 Iraqi Jews
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Contributors
Pratibha Nair: 16.07.2018
Edit History
Sami Bizzari: 05.09.2022
Sayeeda Hana: 17.09.2020
Pratibha Nair: 25.12.2018
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