NM_005033.3:c.41T>C

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HGVS Expressions

  • NG_029848.1:g.5149T>C
  • NM_005033.3:c.41T>C
  • NP_005024.2:p.Leu14Pro
  • NC_000004.12:g.121801465T>C

Associated Genes

Exosome Component 9
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

139632595

Clinvar

549845

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
618065.1United Arab Emirates2PathogenicPontocerebellar Hypoplasia, Type 1DBizzari et al. 2020 The patient had 2 second cousins with ps...
618065.2.1United Arab Emirates2PathogenicPontocerebellar Hypoplasia, Type 1DBizzari et al. 2020 The patient had 2 first cousins once rem...
618065.2.2United Arab Emirates1Bizzari et al. 2020 Father of 618065.2.1
618065.2.3United Arab Emirates1Bizzari et al. 2020 Mother of 618065.2.1
618065.3.1Saudi Arabia2NAPathogenicPontocerebellar Hypoplasia, Type 1DBurns et al. 2018 'Individual 3:II-1' in the publication. ...
618065.3.2Saudi Arabia1NABurns et al. 2018 Father of 618065.3.1
618065.3.3Saudi Arabia1NABurns et al. 2018 Mother of 618065.3.1
618065.G.1United Arab Emirates5Bizzari et al. 2020 Parents and 3 healthy sisters of 618065....
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Contributors

  • Sayeeda Hana: 30.03.2021

Edit History

  • Pratibha Nair: 28.11.2022
  • Asha Deepthi: 19.10.2022
  • Sayeeda Hana: 30.03.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.