NM_000742.4:c.537C>G

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  2. NM_000742.4:c.537C>G

HGVS Expressions

  • NG_015827.1:g.20391C>G
  • NM_000742.4:c.537C>G
  • NP_000733.2:p.Tyr179Ter
  • NC_000008.11:g.27463906G>C

Associated Genes

Cholinergic Receptor, Neuronal Nicotinic, Alpha Polypeptide 2
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

192887571

Clinvar

659083

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610353.1Saudi Arabia1Uncertain SignificanceEpilepsy, Nocturnal Frontal Lobe, 4Monies et al. 2017
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Contributors

  • Asha Deepthi: 18.10.2024

Edit History

  • Asha Deepthi: 18.10.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.