NM_000033.3:c.947A>C

HGVS Expressions

  • NG_009022.1:g.9411A>C
  • NM_000033.3:c.947A>C
  • NP_000024.2:p.Gln316Pro
  • NC_000023.11:g.153729278A>C
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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
300100.1.1Tunisia1Likely PathogenicAdrenoleukodystrophyKallabi et al. 2016 Sibling of 300100.1.2, 300100.1.3, and 3...
300100.1.2Tunisia1Likely PathogenicAdrenoleukodystrophyKallabi et al. 2016 Sibling of 300100.1.1, 300100.1.3, and 3...
300100.1.3Tunisia1Likely PathogenicKallabi et al. 2016 Sibling of 300100.1.1, 300100.1.2, and 3...
300100.1.4Tunisia1Likely PathogenicKallabi et al. 2016 Sibling of 300100.1.1, 300100.1.2, and 3...
300100.1.5Tunisia1Likely PathogenicKallabi et al. 2016 Mother of 300100.1.1, 300100.1.2, 300100...
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