NM_000244.3:c.789G>A

HGVS Expressions

  • NG_008929.1:g.8734G>A
  • NM_000244.3:c.789G>A
  • NP_000235.2:p.Gln263=
  • NC_000011.10:g.64807561C>T

Associated Genes

Menin 1
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
131100.1.1United Arab Emirates1Likely PathogenicMultiple Endocrine Neoplasia, Type IGan et al. 2015
131100.1.2United Arab Emirates1Likely PathogenicMultiple Endocrine Neoplasia, Type IGan et al. 2015 Maternal grandmother of 131100.1.1
131100.1.G.1United Arab Emirates5Likely PathogenicMultiple Endocrine Neoplasia, Type IGan et al. 2015 5 relatives of 131100.1.1
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