NM_001128590.3:c.242_249delGAGACTAC

HGVS Expressions

  • NG_045215.1:g.1362_1369delGAGACTAC
  • NM_001128590.3:c.242_249delGAGACTAC
  • NP_001122062.3:p.Gly81Valfs
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Genomic Location

Chr6:32039133-32039140

Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

12164

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