NM_005199.5:c.351-9T>C

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HGVS Expressions

  • NG_012954.2:g.6674T>C
  • NM_005199.5:c.351-9T>C
  • NP_005190.4:p.?
  • NC_000002.12:g.232541365T>C

Associated Genes

Cholinergic Receptor, Nicotinic, Gamma Polypeptide
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

764382582

Clinvar

1326275

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
265000.6United Arab Emirates2Likely PathogenicMultiple Pterygium Syndrome, Escobar VariantAlabdullatif et al. 2017
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Contributors

  • Pratibha Nair: 28.06.2022

Edit History

  • Pratibha Nair: 10.11.2022
  • Pratibha Nair: 28.06.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.