NM_022835.3:c.1708G>A

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HGVS Expressions

  • NG_054904.2:g.20917G>A
  • NM_022835.3:c.1708G>A
  • NP_073746.2:p.Gly570Arg
  • NC_000019.10:g.39422762G>A

Associated Genes

Pleckstrin Homology Domain- and RhoGEF Domain-Containing Protein G2
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Clinvar Clinical Significance

Likely Pathogenic, Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

370673772

Clinvar

402163

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616763.1Saudi Arabia2Uncertain SignificanceLeukodystrophy and Acquired Microcephaly with or without DystoniaMonies et al. 2017
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Contributors

  • Asha Deepthi: 15.04.2025

Edit History

  • Asha Deepthi: 15.04.2025
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.