NM_000080.4:c.1314G>C

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  2. NM_000080.4:c.1314G>C

HGVS Expressions

  • NG_008029.2:g.9063G>C
  • NM_000080.4:c.1314G>C
  • NP_000071.1:p.Glu438Asp
  • NC_000017.11:g.4899013C>G

Associated Genes

Cholinergic Receptor, Nicotinic, Epsilon Polypeptide
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

772995680

Clinvar

2032499

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
618197.1.2United Arab Emirates1NAUncertain SignificanceAlShamsi et al. 2021 'Patient III-10' in the publication, rel...
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Contributors

  • Asha Deepthi: 11.05.2022

Edit History

  • Sami Bizzari: 24.01.2024
  • Asha Deepthi: 11.05.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.