NM_173791.5:c.2197_2200del

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  2. NM_173791.5:c.2197_2200del

HGVS Expressions

  • NM_173791.5:c.2197_2200del
  • NP_776152.1:p.Ser733Ter
  • NC_000010.11:g.117284536_117284539del

Associated Genes

PDZ Domain-Containing Protein 8
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

1703715

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614235.1.4Oman1PathogenicAl-Amri et al. 2022 Sibling of 614235.1.1
614235.1.5Oman1PathogenicAl-Amri et al. 2022 Father of 614235.1.1
614235.1.6Oman1PathogenicAl-Amri et al. 2022 Mother of 614235.1.1
620021.1.1Oman2PathogenicIntellectual Developmental Disorder with Autism and Dysmorphic FaciesAl-Amri et al. 2022
620021.1.2Oman2PathogenicIntellectual Developmental Disorder with Autism and Dysmorphic FaciesAl-Amri et al. 2022 Sibling of 620021.1.1
620021.1.3Oman2PathogenicIntellectual Developmental Disorder with Autism and Dysmorphic FaciesAl-Amri et al. 2022 Sibling of 620021.1.1
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Contributors

  • Pratibha Nair: 04.07.2022

Edit History

  • Pratibha Nair: 10.11.2022
  • Pratibha Nair: 06.09.2022
  • Pratibha Nair: 04.07.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.