NM_000086.2:c.597C>A

HGVS Expressions

  • NG_008654.2:g.10876C>A
  • NM_000086.2:c.597C>A
  • NP_000077.1:p.Tyr199Ter
  • NC_000016.10:g.28486427G>T

Associated Genes

CLN3 Gene
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

3557

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
204200.2.01Lebanon2PathogenicCeroid Lipofuscinosis, Neuronal, 3Sarpong et al. 2009
204200.2.02Lebanon2PathogenicCeroid Lipofuscinosis, Neuronal, 3Sarpong et al. 2009 Brother of 204200.2.01
204200.2.03Lebanon2PathogenicCeroid Lipofuscinosis, Neuronal, 3Sarpong et al. 2009 Brother of 204200.2.01
204200.2.04Lebanon2PathogenicCeroid Lipofuscinosis, Neuronal, 3Sarpong et al. 2009 Brother of 204200.2.01
204200.2.05Lebanon2PathogenicCeroid Lipofuscinosis, Neuronal, 3Sarpong et al. 2009 Sister of 204200.2.01
204200.2.06Lebanon1PathogenicSarpong et al. 2009 Unaffected sister of 204200.2.01
204200.2.07Lebanon1PathogenicSarpong et al. 2009 Unaffected sister of 204200.2.01
204200.2.08Lebanon1PathogenicSarpong et al. 2009 Unaffected brother of 204200.2.01
204200.2.09Lebanon1PathogenicSarpong et al. 2009 Unaffected sister of 204200.2.01
204200.2.10Lebanon1PathogenicSarpong et al. 2009 Unaffected father of 204200.2.01
204200.2.11Lebanon1PathogenicSarpong et al. 2009 Unaffected mother of 204200.2.01
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