NM_000314.6:c.331T>G

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HGVS Expressions

  • NG_007466.2:g.74652T>G
  • NM_000314.6:c.331T>G
  • NP_000305.3:p.Trp111Gly
  • NC_000010.11:g.87933090T>G

Associated Genes

Phosphatase and Tensin Homolog
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

398123321

Clinvar

936720

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
158350.3United Arab Emirates1Likely PathogenicCowden Syndrome 1Saleh et al. 2021 de novo mutation
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Contributors

  • Pratibha Nair: 15.09.2021

Edit History

  • Pratibha Nair: 15.09.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.