NM_000744.6:c.851C>T

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  2. NM_000744.6:c.851C>T

HGVS Expressions

  • NG_011931.1:g.15784C>T
  • NM_000744.6:c.851C>T
  • NP_000735.1:p.Ser284Leu

Associated Genes

Cholinergic Receptor, Neuronal Nicotinic, Alpha Polypeptide 4
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Genomic Location

chr20:63350560

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

28931591

Clinvar

17500

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600513.1.1Lebanon1PathogenicEpilepsy, Nocturnal Frontal Lobe, 1Phillips et al, 2000 Australian of Lebanese origin; de novo m...
600513.1.2Lebanon1PathogenicEpilepsy, Nocturnal Frontal Lobe, 1Phillips et al, 2000 Son of 600513.1.1
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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.