NM_001017535.1:c.1171C>A

HGVS Expressions

  • NG_008731.1:g.65173C>A
  • NM_001017535.1:c.1171C>A
  • NP_001017535.1:p.Arg391Ser

Associated Genes

Vitamin D Receptor
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Genomic Location

chr12:47844859

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

264696

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
277440.2.1Lebanon2PathogenicVitamin D-Dependent Rickets, Type IIAndary et al, 2017 Proband
277440.2.2Lebanon1PathogenicAndary et al, 2017 Unaffected father of 277440.2.1
277440.2.3Lebanon1PathogenicAndary et al, 2017 Unaffected mother of 277440.2.1
277440.3.1Lebanon2PathogenicVitamin D-Dependent Rickets, Type IIAndary et al, 2017 Proband
277440.3.2Lebanon2PathogenicVitamin D-Dependent Rickets, Type IIAndary et al, 2017 Sister of 277440.3.1
277440.3.3Lebanon1PathogenicAndary et al, 2017 Unaffected father of 277440.3.1
277440.3.4Lebanon1PathogenicAndary et al, 2017 Unaffected mother of 277440.3.1
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