NM_018109.3:c.1468G>T

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HGVS Expressions

  • NG_028096.1:g.40449G>T
  • NM_018109.3:c.1468G>T
  • NP_060579.3:p.Val490Leu
  • NC_000010.11:g.30313890C>A

Associated Genes

Mitochondrial Poly(A) Polymerase
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

1057518710

Clinvar

374341

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613672.1.1United Arab Emirates2PathogenicSpastic Ataxia 4, Autosomal RecessiveAl-Shamsi et al. 2016 Has similarly affected siblings
613672.1.2United Arab Emirates1Likely PathogenicAl-Shamsi et al. 2016 Mother of 613672.1.1
613672.1.3United Arab Emirates1Likely PathogenicAl-Shamsi et al. 2016 Father of 613672.1.1
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Contributors

  • Pratibha Nair: 05.07.2020

Edit History

  • Pratibha Nair: 12.01.2023
  • Pratibha Nair: 23.08.2022
  • Pratibha Nair: 05.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.