NM_004387.4:c.618del

HGVS Expressions

  • NG_013340.1:g.7387del
  • NM_004387.4:c.618del
  • NP_004378.1:p.Leu207fs
  • NC_000005.10:g.173232929del

Associated Genes

NK2 Homeobox 5
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Clinvar

156159

Epidemiology in the Arab World

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