NM_000315.3:c.128G>A

HGVS Expressions

  • NG_008962.1:g.8396G>A
  • NM_000315.3:c.128G>A
  • NP_000306.1:p.Gly43Glu
  • NC_000011.10:g.13492625C>T

Associated Genes

Parathyroid Hormone
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Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyClinical SignificanceCondition(s)ReferenceRemarks
146200.1United Arab Emirates2Likely PathogenicHypoparathyroidism, Familial Isolated, 1Saleh et al. 2021 Similarly affected brother
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