NM_002241.5:c.179T>C

HGVS Expressions

  • NG_016411.1:g.32818T>C
  • NM_002241.5:c.179T>C
  • NP_002232.2:p.Ile60Thr
  • NC_000001.11:g.160042354A>G
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Clinvar Clinical Significance

Likely Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

205826

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