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NM_000543.5:c.1267C>T
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NM_000543.5:c.1267C>T
HGVS Expressions
NG_011780.1:g.8196C>T
NM_000543.5:c.1267C>T
NP_000534.3:p.His423Tyr
NC_000011.10:g.6393620C>T
Associated Genes
Sphingomyelin Phosphodiesterase 1, Acid Lysosomal
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
120074126
Clinvar
2992
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
607616.3
Saudi Arabia
2
Pathogenic
Niemann-Pick Disease, Type B
Monies et al. 2017
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Contributors
Asha Deepthi: 27.11.2024
Edit History
Asha Deepthi: 27.11.2024
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