NM_001032382.2:c.459_462del

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HGVS Expressions

  • NG_015968.2:g.748CT[4]
  • NM_001032382.2:c.459_462del
  • NP_001027554.1:p.Arg153SerfsTer41
  • NC_000023.11:g.48902391AG[4]

Associated Genes

Polyglutamine-Binding Protein 1
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Microsatellite

dbSNP

606231193

Clinvar

10980

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
309500.1United Arab Emirates1Likely PathogenicRenpenning Syndrome 1Saleh et al. 2021 Similarly affected brothers
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Contributors

  • Pratibha Nair: 24.01.2022

Edit History

  • Sami Bizzari: 04.02.2023
  • Pratibha Nair: 10.11.2022
  • Pratibha Nair: 24.01.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.