NM_001277115.2:c.8230C>T

  1. Home
  2. NM_001277115.2:c.8230C>T

HGVS Expressions

  • NG_012886.2:g.206299C>T
  • NM_001277115.2:c.8230C>T
  • NP_001264044.1:p.Arg2744Cys
  • NC_000007.14:g.21744513C>T

Associated Genes

Dynein, Axonemal, Heavy Chain 11
Back to search Result
Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

374826188

Clinvar

834254

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
611884.1United Arab Emirates1Uncertain SignificanceCiliary Dyskinesia, Primary, 7Alsamri et al. 2021
Download Table

Contributors

  • Pratibha Nair: 31.08.2022

Edit History

  • Pratibha Nair: 31.08.2022
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.