NM_001017535.1:c.1190A>C

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HGVS Expressions

  • NG_008731.1:g.65192A>C
  • NM_001017535.1:c.1190A>C
  • NP_001017535.1:p.His397Pro

Associated Genes

Vitamin D Receptor
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Genomic Location

chr12:47844840

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

886037890

Clinvar

264697

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
277440.1.1Lebanon2PathogenicVitamin D-Dependent Rickets, Type IIAndary et al, 2017 Proband
277440.1.2Lebanon1PathogenicAndary et al, 2017 Unaffected father of 277440.1.1
277440.1.3Lebanon1PathogenicAndary et al, 2017 Unaffected mother of 277440.1.1
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Contributors

  • Sayeeda Hana: 15.08.2019

Edit History

  • Sayeeda Hana: 16.08.2019
  • Sayeeda Hana: 15.08.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.