NM_001079515.2:c.155_166del

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HGVS Expressions

  • NG_009230.1:g.39145_39156del
  • NM_001079515.2:c.155_166del
  • NP_001072983.1:p.Ser52_Gly55del
  • NC_000001.11:g.235401557_235401568del

Associated Genes

Tubulin-Specific Chaperone E
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

767004810

Clinvar

5290

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
241410.1United Arab Emirates2PathogenicHypoparathyroidism-Retardation-Dysmorphism SyndromeSaleh et al. 2021
244460.1Saudi Arabia2NAPathogenicKenny-Caffey Syndrome, Type 1Maddirevula et al. 2018
244460.2Saudi Arabia2NAPathogenicKenny-Caffey Syndrome, Type 1Maddirevula et al. 2018
244460.3Saudi Arabia2NAPathogenicKenny-Caffey Syndrome, Type 1Maddirevula et al. 2018
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Contributors

  • Pratibha Nair: 10.10.2021

Edit History

  • Asha Deepthi: 17.02.2022
  • Pratibha Nair: 10.10.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.