NM_000264.3:c.518_521dup

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HGVS Expressions

  • NG_007664.1:g.36215_36218dup
  • NM_000264.3:c.518_521dup
  • NP_000255.2:p.Leu175SerfsTer78
  • NC_000009.12:g.95485748_95485751dup

Associated Genes

Patched 1
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CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610828.1United Arab Emirates1PathogenicHoloprosencephaly 7Saleh et al. 2021 de novo mutation
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Contributors

  • Pratibha Nair: 14.09.2021

Edit History

  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 14.09.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.