NM_000744.6:c.639T>C

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  2. NM_000744.6:c.639T>C

HGVS Expressions

  • NG_011931.1:g.15572T>C
  • NM_000744.6:c.639T>C
  • NP_000735.1:p.Asp213=

Associated Genes

Cholinergic Receptor, Neuronal Nicotinic, Alpha Polypeptide 4
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Genomic Location

chr20:63350772

Clinvar Clinical Significance

Benign

CTGA Clinical Significance

Benign

Variant Type

Substitution

dbSNP

1044393

Clinvar

128749

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600513.G.1Kuwait2BenignEpilepsy, Idiopathic GeneralizedHaider et al. 2005 1 out of 123 patients with Idiopathic Ge...
600513.G.2Kuwait2BenignEpilepsy, Idiopathic GeneralizedHaider et al. 2005 17 out of 123 patients with Idiopathic G...
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Contributors

  • Pratibha Nair: 21.04.2019

Edit History

  • Pratibha Nair: 21.04.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.