NM_000478.6:c.1540G>A

HGVS Expressions

  • NG_008940.1:g.73249G>A
  • NM_000478.6:c.1540G>A
  • NP_000469.3:p.Ala514Thr
  • NC_000001.11:g.21577613G>A
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Clinvar

554421

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
241500.4United Arab Emirates1NAUncertain SignificanceHypophosphatasia, InfantileTenorio et al. 2017 Patient 'HPP104' in the publication.
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