NM_003383.5:c.2117G>T

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HGVS Expressions

  • NG_012741.1:g.33590G>T
  • NM_003383.5:c.2117G>T
  • NP_003374.3:p.Cys706Phe
  • NC_000009.12:g.2650382G>T

Associated Genes

Very Low Density Lipoprotein Receptor
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

397514750

Clinvar

64373

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
224050.G.1Oman; United Arab Emirate...10PathogenicCerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1Ali et al. 2012; Saleh et al. 2021 Five patients from two Emirati families ...
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Contributors

    Edit History

    • Pratibha Nair: 23.08.2022
    • Asha Deepthi: 22.07.2020
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    © CAGS 2024. All rights reserved.
    © CAGS 2024. All rights reserved.