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NM_000405.5:c.262_264del
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NM_000405.5:c.262_264del
HGVS Expressions
NG_009059.1:g.18698_18700del
NM_000405.5:c.262_264del
NP_000396.2:p.Lys88del
NC_000005.10:g.151266749_151266751del
Associated Genes
GM2 Activator
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Clinvar Clinical Significance
Likely Pathogenic, Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
dbSNP
1753894328
Clinvar
976256
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
272750.1.1
Saudi Arabia
2
NA
Pathogenic
GM2-Gangliosidosis, AB Variant
Schepers et al. 1996
'Patient A' from the publication
272750.1.2
Saudi Arabia
1
NA
Schepers et al. 1996
Father of 272750.1.1
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Contributors
Asha Deepthi: 30.11.2022
Edit History
Asha Deepthi: 30.11.2022
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