NM_001002295.1:c.35_36del

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HGVS Expressions

  • NG_015859.1:g.5987_5988del
  • NM_001002295.1:c.35_36del
  • NP_001002295.1:p.Ser12ThrfsTer40
  • NC_000010.11:g.8055690_8055691del

Associated Genes

GATA-Binding Protein 3
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
146255.1United Arab Emirates1Likely PathogenicHypoparathyroidism, Sensorineural Deafness, and Renal DiseaseAl-Shibli et al. 2011
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Contributors

  • Sayeeda Hana: 08.07.2020

Edit History

  • Pratibha Nair: 23.08.2022
  • Rahila Mir: 14.02.2022
  • Sayeeda Hana: 08.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.