NM_181882.2:c.586C>T

HGVS Expressions

  • NG_007979.1:g.20599C>T
  • NM_181882.2:c.586C>T
  • NP_870998.2:p.Arg196Ter
  • NC_000019.10:g.40397766G>A

Associated Genes

Periaxin
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Clinvar Clinical Significance

Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

4791

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