NM_000376.3:c.821G>A

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HGVS Expressions

  • NG_008731.1:g.63289G>A
  • NM_000376.3:c.821G>A
  • NP_000367.1:p.Arg274His
  • NC_000012.12:g.47846743C>T

Associated Genes

Vitamin D Receptor
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

121909796

Clinvar

915348

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
277440.5.1United Arab Emirates2PathogenicVitamin D-Dependent Rickets, Type IIAljubeh et al. 2011 Proband
277440.5.2United Arab Emirates1PathogenicAljubeh et al. 2011 Unaffected father of 277440.5.1
277440.5.3United Arab Emirates1PathogenicAljubeh et al. 2011 Unaffected mother of 277440.5.1
277440.6.1United Arab Emirates2PathogenicVitamin D-Dependent Rickets, Type IIAljubeh et al. 2011
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Contributors

  • Sayeeda Hana: 19.08.2019

Edit History

  • Pratibha Nair: 12.01.2023
  • Sayeeda Hana: 27.11.2022
  • Pratibha Nair: 23.08.2022
  • Sayeeda Hana: 19.08.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.