NM_203475.3:c.268C>T

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HGVS Expressions

  • NG_009278.1:g.7444C>T
  • NM_203475.3:c.268C>T
  • NP_982301.1:p.Arg90Ter
  • NC_000023.11:g.48511426C>T

Associated Genes

Porcupine O-Acyltransferase
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1114167283

Clinvar

242872

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
305600.2Saudi Arabia1PathogenicFocal Dermal HypoplasiaCharng et al. 2016 Proband from 'family 010' in the publica...
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Contributors

  • Asha Deepthi: 01.08.2024

Edit History

  • Asha Deepthi: 01.08.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.