NM_015120.4:c.11876-3T>G

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HGVS Expressions

  • NG_011690.1:g.220440T>G
  • NM_015120.4:c.11876-3T>G
  • NP_055935.4:p.?
  • NC_000002.12:g.73601192T>G

Associated Genes

ALMS1 Centrosome and Basal Body Associated Protein
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
606844.1Lebanon2PathogenicAlstrom SyndromeSanyoura et al. 2014
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Contributors

  • Pratibha Nair: 18.05.2020

Edit History

  • Sami Bizzari: 30.05.2021
  • Pratibha Nair: 18.05.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.