NM_018941.3:c.610C>T

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HGVS Expressions

  • NG_008656.2:g.29539C>T
  • NM_018941.3:c.610C>T
  • NP_061764.2:p.Arg204Cys

Associated Genes

CLN8 Gene
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Genomic Location

chr8:1780316

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

104894060

Clinvar

2804

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600143.1Lebanon2PathogenicCeroid Lipofuscinosis, Neuronal, 8Nair et al. 2018
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Contributors

  • Pratibha Nair: 22.04.2020

Edit History

  • Pratibha Nair: 22.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.