NM_017802.3:c.1292T>C

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HGVS Expressions

  • NG_033137.1:g.35116T>C
  • NM_017802.3:c.1292T>C
  • NP_060272.3:p.Val431Ala
  • NC_000007.14:g.756816T>C

Associated Genes

Dynein Axonemal Assembly Factor 5
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CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
178500.1.1United Arab Emirates1Alsamri et al. 2020; Alsamri et al. 2021 Several variants could be contributing t...
178500.1.2United Arab Emirates1Uncertain SignificanceAlsamri et al. 2020; Alsamri et al. 2021 Sibling of 178500.1.1; Several variants ...
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Contributors

  • Pratibha Nair: 17.02.2022

Edit History

  • Pratibha Nair: 21.02.2023
  • Pratibha Nair: 21.12.2022
  • Pratibha Nair: 17.02.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.