NM_198535.2:c.436_439del

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HGVS Expressions

  • NM_198535.2:c.436_439del
  • NP_940937.1:p.Asp146IlefsTer10
  • NC_000019.10:g.9297330_9297333del

Associated Genes

Zinc Finger Protein 699
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

1205835

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
619488.1United Arab Emirates2PathogenicDEGCAGS SyndromeSaleh et al. 2021 Affected siblings
619488.2United Arab Emirates2PathogenicDEGCAGS SyndromeSaleh et al. 2021
619488.3United Arab Emirates2PathogenicDEGCAGS SyndromeSaleh et al. 2021; Bertoli-Avella et al. 2021 Affected siblings
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Contributors

  • Pratibha Nair: 10.10.2021

Edit History

  • Pratibha Nair: 04.01.2023
  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 10.10.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.