NM_000243.3:c.2078_2080TGA[1]

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  2. NM_000243.3:c.2078_2080TGA[1]

HGVS Expressions

  • NG_007871.1:g.18219_18221TGA[1]
  • NM_000243.3:c.2078_2080TGA[1]
  • NP_000234.1:p.Met694del

Associated Genes

MEFV Innate Immunity Regulator, Pyrin
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Genomic Location

chr16:3243405-3243407

Clinvar Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

104895091

Clinvar

2556

Contributors

  • Sayeeda Hana: 22.09.2020

Edit History

  • Sayeeda Hana: 05.10.2020
  • Sayeeda Hana: 22.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.