NM_018941.4:c.209G>A

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  2. NM_018941.4:c.209G>A

HGVS Expressions

  • NG_008656.2:g.20486G>A
  • NM_018941.4:c.209G>A
  • NP_061764.2:p.Arg70His
  • NC_000008.11:g.1771263G>A

Associated Genes

CLN8 Gene
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

386834124

Clinvar

56704

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600143.2Saudi Arabia2Likely PathogenicCeroid Lipofuscinosis, Neuronal, 8Monies et al. 2019
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Contributors

  • Pratibha Nair: 23.11.2023

Edit History

  • Pratibha Nair: 23.11.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.