NM_004525.3:c.7564T>C

  1. Home
  2. NM_004525.3:c.7564T>C

HGVS Expressions

  • NG_012634.1:g.161983T>C
  • NM_004525.3:c.7564T>C
  • NP_004516.2:p.Tyr2522His
  • NC_000002.12:g.169205630A>G

Associated Genes

Low Density Lipoprotein Receptor-Related Protein 2
Back to search Result
Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

80338747

Clinvar

9450

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
222448.2.1United Arab Emirates2PathogenicDonnai-Barrow SyndromeKantarci et al. 2007 Patient 'IV-5' from kindred 1 in the pub...
222448.2.2United Arab Emirates2PathogenicDonnai-Barrow SyndromeKantarci et al. 2007 Patient 'IV-6' from kindred 1 in the pub...
222448.2.3United Arab Emirates2PathogenicDonnai-Barrow SyndromeKantarci et al. 2007 Patient 'IV-2' from kindred 1 in the pub...
222448.2.4United Arab Emirates2PathogenicDonnai-Barrow SyndromeKantarci et al. 2007 Patient 'IV-3' from kindred 1 in the pub...
222448.2.5United Arab Emirates; Yem...2PathogenicDonnai-Barrow SyndromeKantarci et al. 2007; Khan and Ghazi, 2018 Sister of 222448.2.1 and 222448.2.2
222448.2.6United Arab Emirates; Yem...2PathogenicDonnai-Barrow SyndromeKhan and Ghazi, 2018 Double cousin of 222448.2.1
222448.3.1United Arab Emirates2NAPathogenicDonnai-Barrow SyndromeCharlton et al. 2020
222448.3.2United Arab Emirates2NAPathogenicDonnai-Barrow SyndromeCharlton et al. 2020 Sister of 222448.3.1
222448.3.3United Arab Emirates1NACharlton et al. 2020 Unaffected relative of 222448.3.1
267750.2United Arab Emirates; Yem...1Khan and Ghazi, 2018 "Double niece" of 222448.2.6
Download Table

Contributors

    Edit History

    • Pratibha Nair: 12.01.2023
    • Sayeeda Hana: 15.03.2022
    • Asha Deepthi: 28.02.2022
    • Asha Deepthi: 21.07.2020
    Back to search Result
    © CAGS 2024. All rights reserved.
    © CAGS 2024. All rights reserved.