NM_001184880.2:c.2360G>T

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HGVS Expressions

  • NG_021319.1:g.12494G>T
  • NM_001184880.2:c.2360G>T
  • NP_001171809.1:p.Arg787Leu
  • NC_000023.11:g.100402780C>A

Associated Genes

Protocadherin 19
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

371839798

Clinvar

1054784

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
209850.4Lebanon1Uncertain SignificanceAutismChouery et al. 2023
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Contributors

  • Pratibha Nair: 13.03.2023

Edit History

  • Pratibha Nair: 13.03.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.