NM_001134407.3:c.905C>T

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HGVS Expressions

  • NG_011812.2:g.249694C>T
  • NM_001134407.3:c.905C>T
  • NP_001127879.1:p.Ala302Val
  • NC_000016.10:g.9938061G>A

Associated Genes

Glutamate Receptor, Ionotropic, N-Methyl-D-Aspartate, Subunit 2A
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

2141629886

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
245570.1Saudi Arabia1Likely PathogenicEpilepsy, Focal, with Speech Disorder and with or without Impaired Intellectual DevelopmentMonies et al. 2017
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Contributors

  • Asha Deepthi: 29.10.2024

Edit History

  • Asha Deepthi: 29.10.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.