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NM_000521.4:c.826_829del
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NM_000521.4:c.826_829del
HGVS Expressions
NG_009770.2:g.78538_78541del
NM_000521.4:c.826_829del
NP_000512.2:p.Glu276MetfsTer30
NC_000005.10:g.74713560_74713563del
Associated Genes
Hexosaminidase B
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CTGA Clinical Significance
Likely Pathogenic
Variant Type
Deletion
dbSNP
1561225896
Epidemiology in the Arab World
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United Arab Emirates
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
268800.6
United Arab Emirates
2
Likely Pathogenic
Sandhoff Disease
Al-Shamsi et al. 2016
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Contributors
Pratibha Nair: 15.07.2020
Edit History
Pratibha Nair: 02.01.2023
Pratibha Nair: 29.11.2022
Pratibha Nair: 23.08.2022
Rahila Mir: 17.02.2022
Sayeeda Hana: 05.10.2020
Pratibha Nair: 15.07.2020
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