NM_201525.4:c.1952G>A

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HGVS Expressions

  • NG_011643.1:g.48473G>A
  • NM_201525.4:c.1952G>A
  • NP_958933.1:p.Trp651Ter
  • NC_000016.10:g.57663470G>A

Associated Genes

G Protein-Coupled Receptor 56
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

587783657

Clinvar

158627

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
606854.1.1Jordan2Likely PathogenicPolymicrogyria, Bilateral FrontoparietalReuter et al. 2017
606854.1.2Jordan2Likely PathogenicPolymicrogyria, Bilateral FrontoparietalReuter et al. 2017 Relative of 606854.1.1
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Contributors

  • Sayeeda Hana: 07.09.2024

Edit History

  • Sayeeda Hana: 25.09.2024
  • Sayeeda Hana: 09.09.2024
  • Sayeeda Hana: 07.09.2024
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.