NM_000383.3:c.205_208dup

HGVS Expressions

  • NG_009556.1:g.5750_5753dup
  • NM_000383.3:c.205_208dup
  • NP_000374.1:p.Asp70AlafsTer148
  • NC_000021.9:g.44286629_44286632dup

Associated Genes

Autoimmune Regulator
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

Clinvar

279674

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