NM_173791.5:c.894C>G

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  2. NM_173791.5:c.894C>G

HGVS Expressions

  • NM_173791.5:c.894C>G
  • NP_776152.1:p.Tyr298Ter
  • NC_000010.11:g.117341081G>C

Associated Genes

PDZ Domain-Containing Protein 8
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

770780478

Clinvar

1703716

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
620021.2United Arab Emirates2PathogenicIntellectual Developmental Disorder with Autism and Dysmorphic FaciesAl-Amri et al. 2022
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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.