NM_000478.6:c.815G>T

HGVS Expressions

  • NG_008940.1:g.65963G>T
  • NM_000478.6:c.815G>T
  • NP_000469.3:p.Arg272Leu
  • NC_000001.11:g.21570327G>T
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

1457567

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
241500.2.1Egypt1NAPathogenicHypophosphatasia, InfantileTenorio et al. 2017 Patient 'HPP48' in the publication.
241500.2.2Egypt1NAPathogenicHypophosphatasia, InfantileTenorio et al. 2017 Twin brother of 241500.2.1 (Patient 'HPP...
241500.2.3Egypt1NAPathogenicHypophosphatasia, InfantileTenorio et al. 2017 Sister of 241500.2.1 (Patient 'HPP50' in...
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