NM_021956.5:c.2179C>T

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  2. NM_021956.5:c.2179C>T

HGVS Expressions

  • NG_009224.2:g.641405C>T
  • NM_021956.5:c.2179C>T
  • NP_068775.1:p.Arg727Ter
  • NC_000006.12:g.102035434C>T

Associated Genes

Glutamate Receptor, Ionotropic, Kainate 2
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1405323358

Clinvar

3064164

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
611092.1Saudi Arabia2Likely PathogenicIntellectual Developmental Disorder, Autosomal Recessive 6Monies et al. 2017
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Contributors

  • Asha Deepthi: 07.11.2024

Edit History

  • Asha Deepthi: 07.11.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.