NM_001044385.3:c.325C>T

HGVS Expressions

  • NG_032049.1:g.15149C>T
  • NM_001044385.3:c.325C>T
  • NP_001037850.1:p.Arg109Ter
  • NC_000002.12:g.201633381G>A
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Clinvar Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

1403232

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