NM_004560.4:c.574T>G

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HGVS Expressions

  • NG_008089.1:g.217724T>G
  • NM_004560.4:c.574T>G
  • NP_004551.2:p.Tyr192Asp
  • NC_000009.12:g.91737439A>C

Associated Genes

Receptor Tyrosine Kinase-Like Orphan Receptor 2
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
268310.3.1Egypt2PathogenicRobinow Syndrome, Autosomal RecessiveAli et al. 2007
268310.3.2Egypt1Ali et al. 2007 Father of 268310.3.1
268310.3.3Egypt1Ali et al. 2007 Mother of 268310.3.1
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Contributors

  • Pratibha Nair: 13.07.2022

Edit History

  • Pratibha Nair: 13.07.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.