NM_178170.3:c.133C>T

  1. Home
  2. NM_178170.3:c.133C>T

HGVS Expressions

  • NG_012263.1:g.10255C>T
  • NM_178170.3:c.133C>T
  • NP_835464.1:p.Arg45Trp
  • NC_000017.11:g.28734068C>T

Associated Genes

Never in Mitosis Gene A-Related Kinase 8
Back to search Result
Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1567759130

Clinvar

593252

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613824.1Lebanon1Likely PathogenicNephronophthisis 9Mehawej et al. 2022 de novo variant
Download Table

Contributors

  • Pratibha Nair: 08.03.2023

Edit History

  • Pratibha Nair: 08.03.2023
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.