NM_001384732.1:c.3150-1G>T

  1. Home
  2. NM_001384732.1:c.3150-1G>T

HGVS Expressions

  • NG_032772.2:g.48974G>T
  • NM_001384732.1:c.3150-1G>T
  • NP_001371661.1:p.?
  • NC_000005.10:g.37205455C>A

Associated Genes

Ciliogenesis and Planar Polarity Effector Complex Subunit 1
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

606231258

Clinvar

157512

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
277170.1.1IraqPathogenicOrofaciodigital Syndrome VIBruel et al. 2017
277170.1.2IraqPathogenicOrofaciodigital Syndrome VIBruel et al. 2017 Relative of 277170.1.1
Download Table

Contributors

  • Asha Deepthi: 16.09.2024

Edit History

  • Asha Deepthi: 16.09.2024
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.