NM_003384.3:c.236C>T

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HGVS Expressions

  • NG_016293.1:g.53768C>T
  • NM_003384.3:c.236C>T
  • NP_003375.1:p.Pro79Leu
  • NC_000014.9:g.96846114C>T

Associated Genes

Vaccinia-Related Kinase 1
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

1251999

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
607596.1Saudi Arabia2PathogenicCeroid Lipofuscinosis, Neuronal, 10Shaheen et al. 2019
607596.2Saudi Arabia2PathogenicCeroid Lipofuscinosis, Neuronal, 10Shaheen et al. 2019
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Contributors

  • Sayeeda Hana: 28.01.2022

Edit History

  • Pratibha Nair: 10.11.2022
  • Rahila Mir: 07.02.2022
  • Sayeeda Hana: 28.01.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.