NM_014738.5:c.810del

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HGVS Expressions

  • NG_054884.1:g.53153del
  • NM_014738.5:c.810del
  • NP_055553.3:p.Asp270GlufsTer10
  • NC_000017.11:g.75489311del

Associated Genes

Transmembrane Protein 94
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

1567950778

Clinvar

617668

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
618316.1United Arab Emirates2PathogenicIntellectual Developmental Disorder with Cardiac Defects and Dysmorphic FaciesSaleh et al. 2021
618316.2.1Qatar2PathogenicIntellectual Developmental Disorder with Cardiac Defects and Dysmorphic FaciesStephen et al. 2018
618316.2.2Qatar2PathogenicIntellectual Developmental Disorder with Cardiac Defects and Dysmorphic FaciesStephen et al. 2018 Sibling of 618316.2.1
618316.2.3Qatar2PathogenicIntellectual Developmental Disorder with Cardiac Defects and Dysmorphic FaciesStephen et al. 2018 Sibling of 618316.2.1
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Contributors

  • Pratibha Nair: 05.10.2021

Edit History

  • Pratibha Nair: 05.09.2023
  • Pratibha Nair: 11.10.2021
  • Pratibha Nair: 05.10.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.