NM_001145717.1:c.535C>T

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HGVS Expressions

  • NG_032813.1:g.56053C>T
  • NM_001145717.1:c.535C>T
  • NP_001139189.2:p.Gln179*

Associated Genes

Patatin-Like Phospholipase Domain-Containing Protein 1
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Genomic Location

chr6:36294220

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1770781304

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615024.1Lebanon2PathogenicIchthyosis, Congenital, Autosomal Recessive, 10Nair et al. 2018 Has affected siblings
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Contributors

  • Pratibha Nair: 20.04.2020

Edit History

  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 22.09.2021
  • Pratibha Nair: 20.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.