NM_001378454.1:c.11873-2A>T

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HGVS Expressions

  • NG_011690.1:g.220441A>T
  • NM_001378454.1:c.11873-2A>T
  • NP_055935.4:p.?
  • NC_000002.12:g.73601193A>T

Associated Genes

ALMS1 Centrosome and Basal Body Associated Protein
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

786205527

Clinvar

191115

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
203800.1United Arab Emirates2Likely PathogenicAlstrom SyndromeKhan. 2020
268000.G.4Saudi Arabia4+PathogenicRetinitis PigmentosaPatel et al. 2016 Family with unknown number of affected m...
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Contributors

  • Asha Deepthi: 10.05.2021

Edit History

  • Sayeeda Hana: 05.08.2024
  • Pratibha Nair: 11.01.2023
  • Sayeeda Hana: 07.12.2022
  • Asha Deepthi: 10.05.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.