NM_001797.4:c.999+1G>T

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HGVS Expressions

  • NG_029491.2:g.138861G>T
  • NM_001797.4:c.999+1G>T
  • NC_000016.10:g.64988156C>A

Associated Genes

Cadherin 11
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1555515331

Clinvar

523097

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
211380.1Saudi Arabia2Likely PathogenicElsahy-Waters SyndromeAlazami et al. 2015; Anazi et al. 2017a
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Contributors

  • Pratibha Nair: 19.10.2023

Edit History

  • Pratibha Nair: 19.10.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.