NM_006432.5:c.88G>A

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HGVS Expressions

  • NG_007117.1:g.11951G>A
  • NM_006432.5:c.88G>A
  • NP_006423.1:p.Val30Met
  • NC_000014.9:g.74486431C>T

Associated Genes

NPC Intracellular Cholesterol Transporter 2
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Clinvar Clinical Significance

Benign, Likely Benign

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

151220873

Clinvar

183281

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
607625.1Saudi Arabia2Likely PathogenicNiemann-Pick Disease, Type C2Alazami et al. 2015 No organomegaly; normal retina
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Contributors

  • Pratibha Nair: 11.05.2023

Edit History

  • Pratibha Nair: 18.10.2023
  • Pratibha Nair: 11.05.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.