NM_001128431.4:c.751-9C>G

HGVS Expressions

  • NG_054890.1:g.53512C>G
  • NM_001128431.4:c.751-9C>G
  • NC_000008.11:g.22415760C>G
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Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

446707

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountClinical SignificanceCondition(s)ReferenceRemarks
617013.1.1United Arab Emirates2Likely PathogenicHypermanganesemia With Dystonia 2Rodan et al. 2018 'Patient 1' in the publication
617013.1.GUnited Arab Emirates4Rodan et al. 2018 Relatives of 617013.1.1 (parents + 2 sib...
617013.2United Arab Emirates2Likely PathogenicHypermanganesemia With Dystonia 2Rodan et al. 2018 'Patient 2' in the publication
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