NM_001386393.1:c.1253C>T

HGVS Expressions

  • NG_008131.3:g.34879C>T
  • NM_001386393.1:c.1253C>T
  • NP_001373322.1:p.Thr418Met
  • NC_000020.11:g.3918717C>T

Associated Genes

Pantothenate Kinase 2
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

4556

Epidemiology in the Arab World

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