NM_020988.3:c.680C>T

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  2. NM_020988.3:c.680C>T

HGVS Expressions

  • NG_042800.1:g.150479C>T
  • NM_020988.3:c.680C>T
  • NP_066268.1:p.Ala227Val
  • NC_000016.10:g.56336817C>T

Associated Genes

Guanine Nucleotide-Binding Protein, Alpha-Activating Activity Polypeptide O
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

797045599

Clinvar

211088

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
617768.1United Arab Emirates1NAPathogenicNeurodevelopmental Disorder with Involuntary MovementsMahfouz et al. 2020
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Contributors

  • Asha Deepthi: 19.07.2022

Edit History

  • Asha Deepthi: 19.07.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.