NM_001042472.3:c.846_852dup

HGVS Expressions

  • NG_028119.1:g.87996_88002dup
  • NM_001042472.3:c.846_852dup
  • NP_001035937.1:p.His285Ter
  • NC_000020.11:g.25307984_25307990dup
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

Clinvar

26

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