NM_001032280.2:c.749C>T

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HGVS Expressions

  • NG_016151.1:g.21957C>T
  • NM_001032280.2:c.749C>T
  • NP_001027451.1:p.Ala250Val
  • NC_000006.12:g.10402608G>A

Associated Genes

Transcription Factor AP2-Alpha
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

151344531

Clinvar

547803

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
113620.1.1Lebanon1Likely PathogenicBranchiooculofacial SyndromeMegarbane et al. 1998; Milunsky et al. 2011
113620.1.2Lebanon1Likely PathogenicBranchiooculofacial SyndromeMegarbane et al. 1998; Milunsky et al. 2011 Daughter of 113620.1.1
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Contributors

  • Pratibha Nair: 18.07.2021

Edit History

  • Pratibha Nair: 18.07.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.