NM_000815.5:c.875C>T

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HGVS Expressions

  • NG_008168.1:g.15250C>T
  • NM_000815.5:c.875C>T
  • NP_000806.2:p.Thr292Met
  • NC_000001.11:g.2029578C>T

Associated Genes

Gamma-Aminobutyric Acid Receptor, Delta
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

778104822

Clinvar

3064155

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613060.1Saudi Arabia2Likely PathogenicEpilepsy, Idiopathic Generalized, Susceptibility to, 10Monies et al. 2017 Patient is homozygous for the mutation. ...
613060.2Saudi Arabia2Likely PathogenicEpilepsy, Idiopathic Generalized, Susceptibility to, 10Monies et al. 2017 Patient is homozygous for the mutation. ...
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Contributors

  • Asha Deepthi: 05.11.2024

Edit History

  • Asha Deepthi: 05.11.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.