NM_014738.6:c.2734C>T

  1. Home
  2. NM_014738.6:c.2734C>T

HGVS Expressions

  • NG_054884.1:g.59131C>T
  • NM_014738.6:c.2734C>T
  • NP_055553.3:p.Arg912Ter
  • NC_000017.11:g.75495289C>T

Associated Genes

Transmembrane Protein 94
Back to search Result
Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

557746506

Clinvar

617667

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
618316.3.1Oman2PathogenicIntellectual Developmental Disorder with Cardiac Defects and Dysmorphic FaciesStephen et al. 2018
618316.3.2Oman2PathogenicIntellectual Developmental Disorder with Cardiac Defects and Dysmorphic FaciesStephen et al. 2018 Sibling of 618316.3.1
Download Table

Contributors

  • Pratibha Nair: 05.09.2023

Edit History

  • Pratibha Nair: 05.09.2023
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.