NM_001127222.2:c.1030ATC[2]

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HGVS Expressions

  • NG_011569.1:g.175609_175609del
  • NM_001127222.2:c.1030ATC[2]
  • NP_000059.3:p.Ile346del
  • NC_000019.10:g.13335858_13335860del

Associated Genes

Calcium Channel, Voltage-Dependent, P/Q Type, Alpha-1A Subunit
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Microsatellite

dbSNP

2058556589

Clinvar

972987

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
617106.3United Arab Emirates1Likely PathogenicDevelopmental and Epileptic Encephalopathy 42Saleh et al. 2021 de novo mutation
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Contributors

  • Pratibha Nair: 22.09.2021

Edit History

  • Pratibha Nair: 05.01.2023
  • Rahila Mir: 09.02.2022
  • Pratibha Nair: 22.09.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.