NM_022437.3:c.965-1G>C

HGVS Expressions

  • NG_008884.2:g.45034G>C
  • NM_022437.3:c.965-1G>C
  • NP_071882.1:p.?
  • NC_000002.12:g.43871975G>C
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Clinvar Clinical Significance

Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

546173

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
210250.1.1Tunisia2PathogenicSitosterolemia 1Bardawil et al, 2017 Proband. The homozygous form of the m...
210250.1.2Tunisia2PathogenicSitosterolemia 1Bardawil et al, 2017 Sister of 210250.1.1.
210250.1.3Tunisia1PathogenicSitosterolemia 1Bardawil et al, 2017 Father of 210250.1.1.
210250.1.4Tunisia1PathogenicSitosterolemia 1Bardawil et al, 2017 Mother of 210250.1.1.
210250.1.5Tunisia1PathogenicSitosterolemia 1Bardawil et al, 2017 Paternal aunt of 210250.1.1.
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