NM_000448.2:c.940C>T

HGVS Expressions

  • NG_007528.1:g.11232C>T
  • NM_000448.2:c.940C>T
  • NP_000439.1:p.Arg314Trp
  • NC_000011.10:g.36574244C>T
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Clinvar Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

13156

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