NM_018192.4:c.297del

HGVS Expressions

  • NG_031929.1:g.7003del
  • NM_018192.4:c.297del
  • NP_060662.2:p.Gly100AlafsTer104
  • NC_000003.12:g.190120440del

Associated Genes

Prolyl 3-Hydroxylase 2
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

225632

Epidemiology in the Arab World

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