NM_014780.5:c.1234_1235del

HGVS Expressions

  • NG_016205.1:g.8548_8549del
  • NM_014780.5:c.1234_1235del
  • NP_055595.2:p.Val412IlefsTer22
  • NC_000006.12:g.43050397_43050398del

Associated Genes

Cullin 7
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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