NM_000478.6:c.668G>A

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  2. NM_000478.6:c.668G>A

HGVS Expressions

  • NG_008940.1:g.63759G>A
  • NM_000478.6:c.668G>A
  • NP_000469.3:p.Arg223Gln
  • NC_000001.11:g.21568123G>A

Associated Genes

Alkaline phosphatase, Liver
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

199665722

Clinvar

381586

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
241500.1Lebanon1Likely PathogenicHypophosphatasia, InfantileNair et al. 2018
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Contributors

  • Pratibha Nair: 19.04.2020

Edit History

  • Pratibha Nair: 22.11.2022
  • Pratibha Nair: 19.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.