NM_003722.5:c.739C>T

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HGVS Expressions

  • NG_007550.1:g.237965C>T
  • NM_003722.5:c.739C>T
  • NP_003713.3:p.His247Tyr
  • NC_000003.12:g.189864391C>T

Associated Genes

Tumor Protein p63
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1553856553

Clinvar

478110

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604292.3Saudi Arabia1NAPathogenicEctrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3Maddirevula et al. 2018 De novo mutation
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Contributors

  • Asha Deepthi: 21.02.2022

Edit History

  • Asha Deepthi: 21.02.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.