NM_001009944.3:c.5814C>A

  1. Home
  2. NM_001009944.3:c.5814C>A

HGVS Expressions

  • NG_008617.1:g.31546C>A
  • NM_001009944.3:c.5814C>A
  • NP_001009944.3:p.His1938Gln

Associated Genes

Polycystin 1
Back to search Result
Genomic Location

chr16:2109353

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1199519847

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
173900.1Lebanon1Likely PathogenicPolycystic Kidney Disease 1 with or without Polycystic Liver Disease Jalkh et al. 2019
Download Table

Contributors

  • Pratibha Nair: 01.11.2020

Edit History

  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 01.11.2020
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.