NM_014043.4:c.85A>G

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HGVS Expressions

  • NG_007885.1:g.18487A>G
  • NM_014043.4:c.85A>G
  • NP_054762.2:p.Ile29Val
  • NC_000003.12:g.87240749A>G

Associated Genes

Charged Multivesicular Body Protein 2B
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Clinvar Clinical Significance

Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

63750818

Clinvar

21507

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600795.1Saudi Arabia1Likely PathogenicFrontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7Monies et al. 2017
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Contributors

  • Asha Deepthi: 18.01.2025

Edit History

  • Asha Deepthi: 18.01.2025
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.