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NM_000521.3:c.1169+3_1169+10delAAGTTGTT
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NM_000521.3:c.1169+3_1169+10delAAGTTGTT
HGVS Expressions
NG_009770.2:g.81654_81661del
NM_000521.3:c.1169+3_1169+10delAAGTTGTT
NP_000512.1:p.?
NC_000005.10:g.74716676_74716683del
Associated Genes
Hexosaminidase B
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Clinvar Clinical Significance
Likely Pathogenic
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Deletion
dbSNP
398123444
Clinvar
93195
Epidemiology in the Arab World
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Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
268800.2
Saudi Arabia
2
Likely Pathogenic
Sandhoff Disease
Kaya et al. 2011
268800.3
Saudi Arabia
2
Likely Pathogenic
Sandhoff Disease
Kaya et al. 2011
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Contributors
Pratibha Nair: 20.05.2018
Edit History
Pratibha Nair: 08.11.2022
Pratibha Nair: 12.10.2022
Sayeeda Hana: 17.09.2020
Pratibha Nair: 05.07.2020
Pratibha Nair: 24.12.2018
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