NM_022786.2:c.565G>A

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HGVS Expressions

  • NG_052022.1:g.21828G>A
  • NM_022786.2:c.565G>A
  • NP_073623.1:p.Gly189Arg

Associated Genes

ARV1 Homolog, Fatty Acid Homeostasis Modulator
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Genomic Location

chr1:230995876

Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

730882241

Clinvar

183341

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
617020.1.1Saudi Arabia2Likely PathogenicDevelopmental And Epileptic Encephalopathy 38Alazami et al. 2015 Second cousin of patient siblings 617020...
617020.1.2Saudi Arabia2Likely PathogenicDevelopmental And Epileptic Encephalopathy 38Alazami et al. 2015
617020.1.3Saudi Arabia2Likely PathogenicDevelopmental And Epileptic Encephalopathy 38Alazami et al. 2015
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Contributors

  • Sami Bizzari: 15.09.2020

Edit History

  • Sami Bizzari: 15.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.