NM_001142763.2:c.2376TGT[2]

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HGVS Expressions

  • NG_009191.3:g.1611126TGT[2]
  • NM_001142763.2:c.2376TGT[2]
  • NP_001341359.1:p.Val790del
  • NC_000010.11:g.54023050CAA[2]

Associated Genes

Protocadherin 15
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Clinvar Clinical Significance

Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Microsatellite

dbSNP

483352837

Clinvar

126521

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
609533.1United Arab Emirates2Likely PathogenicDeafness, Autosomal Recessive 23Saleh et al. 2021 Similarly affected sister
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Contributors

  • Pratibha Nair: 18.01.2022

Edit History

  • Pratibha Nair: 18.01.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.