NM_002834.4:c.417G>C

  1. Home
  2. NM_002834.4:c.417G>C

HGVS Expressions

  • NG_007459.1:g.39548G>C
  • NM_002834.4:c.417G>C
  • NP_002825.3:p.Glu139Asp

Associated Genes

Protein-Tyrosine Phosphatase, Nonreceptor-Type, 11
Back to search Result
Genomic Location

chr12:112453279

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

397507520

Clinvar

40513

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
163950.1Lebanon1PathogenicNoonan Syndrome 1Nair et al. 2018 Deceased fetus
Download Table

Contributors

  • Pratibha Nair: 16.04.2020

Edit History

  • Pratibha Nair: 16.04.2020
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.