NM_006493.4:c.510_514dup

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HGVS Expressions

  • NG_009064.1:g.9149_9153dup
  • NM_006493.4:c.510_514dup
  • NP_006484.2:p.Asp172ValfsTer12
  • NC_000013.11:g.76996072_76996076dup

Associated Genes

CLN5 Intracellular Trafficking Protein
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

dbSNP

1555274005

Clinvar

434793

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
256731.2Saudi Arabia1PathogenicCeroid Lipofuscinosis, Neuronal, 5Monies et al. 2017
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Contributors

  • Asha Deepthi: 29.11.2024

Edit History

  • Asha Deepthi: 29.11.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.