NM_001079515.2:c.155_166del

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
Back to search Result
Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

5290

Epidemiology in the Arab World

View Map
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
© CAGS 2024. All rights reserved.