NM_000104.3:c.840C>A

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HGVS Expressions

  • NG_008386.2:g.6553C>A
  • NM_000104.3:c.840C>A
  • NP_000095.2:p.Cys280Ter
  • NC_000002.12:g.38074549G>T

Associated Genes

Cytochrome P450, Subfamily I, Polypeptide 1
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Clinvar Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

778202993

Clinvar

1076484

Contributors

  • Pratibha Nair: 28.04.2019

Edit History

  • Pratibha Nair: 21.11.2022
  • Rahila Mir: 17.02.2022
  • Pratibha Nair: 28.04.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.