NM_015404.4:c.1267C>T

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HGVS Expressions

  • NG_016700.1:g.85974C>T
  • NM_015404.4:c.1267C>T
  • NP_056219.3:p.Arg423Ter
  • NC_000009.12:g.114424483G>A

Associated Genes

Whirlin
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Clinvar Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

397517255

Clinvar

45645

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600060.3.1United Arab Emirates1Ben-Salem et al. 2014
600060.3.2United Arab Emirates1Ben-Salem et al. 2014 Sibling of 600060.3.1
600060.3.4United Arab Emirates1Ben-Salem et al. 2014 First cousin once removed of 600060.3.1
600060.3.5United Arab Emirates1Ben-Salem et al. 2014 Sibling of 600060.3.4
600060.3.6United Arab Emirates1Ben-Salem et al. 2014 Sibling of 600060.3.4
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Contributors

  • Pratibha Nair: 31.08.2020

Edit History

  • Pratibha Nair: 21.12.2022
  • Pratibha Nair: 23.08.2022
  • Pratibha Nair: 31.08.2020
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© CAGS 2024. All rights reserved.