NM_017950.4:c.257A>G

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  2. NM_017950.4:c.257A>G

HGVS Expressions

  • NG_029761.1:g.8344A>G
  • NM_017950.4:c.257A>G
  • NP_060420.2:p.Tyr86Cys
  • NC_000017.11:g.80039975A>G

Associated Genes

Coiled-Coil Domain-Containing Protein 40
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Benign, Pathogenic

Variant Type

Substitution

dbSNP

202220442

Clinvar

325722

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...
613808.1United Arab Emirates1NAPathogenicCiliary Dyskinesia, Primary, 15Alsamri et al. 2021 'Patient 6' in the publication
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Contributors

  • Pratibha Nair: 21.02.2022

Edit History

  • Asha Deepthi: 30.08.2022
  • Pratibha Nair: 21.02.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.