NM_000742.4:c.1568C>T

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  2. NM_000742.4:c.1568C>T

HGVS Expressions

  • NG_015827.1:g.22646C>T
  • NM_000742.4:c.1568C>T
  • NP_000733.2:p.Pro523Leu
  • NC_000008.11:g.27461651G>A

Associated Genes

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

Likely Benign, Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

145238683

Clinvar

204977

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610353.2Saudi 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.