NM_003242.6:c.1301T>A

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  2. NM_003242.6:c.1301T>A

HGVS Expressions

  • NG_007490.1:g.72650T>A
  • NM_003242.6:c.1301T>A
  • NP_003233.4:p.Met434Lys
  • NC_000003.12:g.30674151T>A

Associated Genes

Transforming Growth Factor-Beta Receptor, Type II
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1575158954

Clinvar

1687722

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610168.1Saudi Arabia1Likely PathogenicLoeys-Dietz Syndrome 2Monies et al. 2019 de novo mutation
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Contributors

  • Pratibha Nair: 15.11.2023

Edit History

  • Pratibha Nair: 15.11.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.