NM_001364085.1:c.137G>T

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  2. NM_001364085.1:c.137G>T

HGVS Expressions

  • NG_008731.1:g.31055G>T
  • NM_001364085.1:c.137G>T
  • NP_001351014.1:p.Gly46Val

Associated Genes

Vitamin D Receptor
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Genomic Location

chr12:47878977

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

121909797

Clinvar

7753

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
277440.4.1Saudi Arabia2PathogenicVitamin D-Dependent Rickets, Type IILin et al. 1996 Proband
277440.4.2Saudi Arabia1PathogenicLin et al. 1996 Unaffected father of 277440.4.1
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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.