NM_000314.6:c.70G>C

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HGVS Expressions

  • NG_007466.2:g.6101G>C
  • NM_000314.6:c.70G>C
  • NP_000305.3:p.Asp24His
  • NC_000010.11:g.87864539G>C

Associated Genes

Phosphatase and Tensin Homolog
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

786201995

Clinvar

186005

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
158350.2United Arab Emirates1PathogenicCowden Syndrome 1Saleh et al. 2021 de novo mutation
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Contributors

  • Pratibha Nair: 12.09.2021

Edit History

  • Pratibha Nair: 11.01.2023
  • Pratibha Nair: 12.09.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.