NM_017882.3:c.791CCT[1]

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  2. NM_017882.3:c.791CCT[1]

HGVS Expressions

  • NG_008764.2:g.53927CCT[1]
  • NM_017882.3:c.791CCT[1]
  • NP_060352.1:p.Ser265del
  • NC_000015.10:g.68208282GAG[1]

Associated Genes

CLN6 Transmembrane ER Protein
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Microsatellite

dbSNP

768422260

Clinvar

205182

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
601780.1Saudi Arabia2Likely PathogenicCeroid Lipofuscinosis, Neural, 6AMonies et al. 2017
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Contributors

  • Asha Deepthi: 28.11.2024

Edit History

  • Asha Deepthi: 28.11.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.