NM_019892.6:c.1688G>A

  1. Home
  2. NM_019892.6:c.1688G>A

HGVS Expressions

  • NG_016126.1:g.14414G>A
  • NM_019892.6:c.1688G>A
  • NP_063945.2:p.Arg563His
  • NC_000009.12:g.136430391C>T

Associated Genes

Inositol Polyphosphate-5-Phosphatase, 72-KD
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

121918128

Clinvar

398

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
213300.G.4United Arab Emirates8NAPathogenicJoubert Syndrome 1Bielas et al. 2009; Ben-Salem et al. 2014; Al-Gazali and Hamamy. 2014 Four Emirati patients from 'MTI-008' fam...
Download Table

Contributors

  • Sayeeda Hana: 25.03.2022

Edit History

  • Sami Bizzari: 14.12.2022
  • Asha Deepthi: 30.09.2022
  • Sayeeda Hana: 28.03.2022
  • Sayeeda Hana: 25.03.2022
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.