NM_001172435.2:c.52A>C

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  2. NM_001172435.2:c.52A>C

HGVS Expressions

  • NG_016972.1:g.5199A>C
  • NM_001172435.2:c.52A>C
  • NP_001165906.1:p.Thr18Pro

Associated Genes

RAB3 GTPase-Activating Protein, Catalytic Subunit
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Genomic Location

chr2:135052463

Clinvar Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

587777154

Clinvar

100771

Contributors

  • Pratibha Nair: 12.04.2020

Edit History

  • Pratibha Nair: 12.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.