NM_018076.5:c.1709G>A

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  2. NM_018076.5:c.1709G>A

HGVS Expressions

  • NG_042820.1:g.59795G>A
  • NM_018076.5:c.1709G>A
  • NP_060546.2:p.Arg570Gln
  • NC_000010.11:g.27944256C>T

Associated Genes

Outer Dynein Arm Docking Complex Subunit 2
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Clinvar Clinical Significance

Likely Benign, Uncertain Significance

CTGA Clinical Significance

Likely Benign

Variant Type

Substitution

dbSNP

140569195

Clinvar

412251

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
219700.75United Arab Emirates1Likely BenignAlsamri et al. 2020 Mother's cousin affected with cystic fib...
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Contributors

  • Pratibha Nair: 21.02.2022

Edit History

  • Sayeeda Hana: 13.01.2023
  • Pratibha Nair: 21.02.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.