NM_000086.2:c.461-280_677+382del

HGVS Expressions

  • NG_008654.2:g.10373_11338del
  • NM_000086.2:c.461-280_677+382del

Associated Genes

CLN3 Gene
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Genomic Location

chr16: 28485965-28486930

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

3552

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
204200.1.1Lebanon1PathogenicCeroid Lipofuscinosis, Neuronal, 3Boustany et al, 2008
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