NM_001909.5:c.1155_1169dup

HGVS Expressions

  • NG_008655.1:g.15406_15420dup
  • NM_001909.5:c.1155_1169dup
  • NP_001900.1:p.Phe389_Ile390insMetGlyAspValPhe
  • NC_000011.10:g.1753574_1753588dup

Associated Genes

Cathepsin D
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

Clinvar

183293

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610127.1.1Saudi Arabia2PathogenicCeroid Lipofuscinosis, Neuronal, 10Shaheen et al. 2019
610127.1.2Saudi Arabia2PathogenicCeroid Lipofuscinosis, Neuronal, 10Shaheen et al. 2019 Relative of 610127.1.1
610127.1.3Saudi Arabia2PathogenicCeroid Lipofuscinosis, Neuronal, 10Shaheen et al. 2019 Relative of 610127.1.1
610127.1.4Saudi Arabia2PathogenicCeroid Lipofuscinosis, Neuronal, 10Shaheen et al. 2019 Relative of 610127.1.1
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