NM_033419.5:c.851A>G

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HGVS Expressions

  • NG_034125.1:g.19972A>G
  • NM_033419.5:c.851A>G
  • NP_219487.3:p.His284Arg
  • NC_000017.11:g.39673099T>C

Associated Genes

Post-GPI Attachment To Proteins 3
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

776720232

Clinvar

599004

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615716.2United Arab Emirates2PathogenicHyperphosphatasia with mental retardation syndrome 4 Saleh et al. 2021 Affected sibling
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Contributors

  • Pratibha Nair: 11.10.2021

Edit History

  • Pratibha Nair: 11.10.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.