NM_016474.5:c.884G>C

  1. Home
  2. NM_016474.5:c.884G>C

HGVS Expressions

  • NG_046773.1:g.21368G>C
  • NM_016474.5:c.884G>C
  • NP_057558.3:p.Arg295Thr
  • NC_000003.12:g.14668113G>C

Associated Genes

Coiled-Coil Domain-Containing Protein 174
Back to search Result
CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616816.1Saudi Arabia2Uncertain SignificanceHypotonia, Infantile, with Psychomotor RetardationMonies et al. 2017 Patient has two siblings with similar sy...
Download Table

Contributors

  • Asha Deepthi: 15.04.2025

Edit History

  • Asha Deepthi: 15.04.2025
Back to search Result
© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.