NM_000478.6:c.449T>G

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  2. NM_000478.6:c.449T>G

HGVS Expressions

  • NG_008940.1:g.58897T>G
  • NM_000478.6:c.449T>G
  • NP_000469.3:p.Ile150Ser

Associated Genes

Alkaline phosphatase, Liver
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Genomic Location

chr1:21563261

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1553412351

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

  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 19.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.