NM_022089.3:c.1550C>T

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HGVS Expressions

  • NG_009054.1:g.23101C>T
  • NM_022089.3:c.1550C>T
  • NP_071372.1:p.Thr517Ile
  • NC_000001.11:g.16993828G>A

Associated Genes

ATPase 13A2
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1057519291

Clinvar

374888

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
606693.1Lebanon2PathogenicKufor-Rakeb SyndromeGrünewald et al. 2012
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Contributors

  • Sami Bizzari: 12.01.2021

Edit History

  • Sami Bizzari: 12.01.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.