NM_003560.4:c.2370T>G

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HGVS Expressions

  • NG_007094.3:g.107567T>G
  • NM_003560.4:c.2370T>G
  • NP_003551.2:p.Tyr790Ter
  • NC_000022.11:g.38112212A>C

Associated Genes

Phospholipase A2, Group VI
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

121908680

Clinvar

6195

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
256600.1Lebanon2PathogenicNeurodegeneration with Brain Iron Accumulation 2ANair et al. 2018
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Contributors

  • Pratibha Nair: 21.04.2020

Edit History

  • Pratibha Nair: 22.11.2022
  • Pratibha Nair: 21.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.