NM_018136.5:c.1138C>T

HGVS Expressions

  • NG_015867.1:g.8581C>T
  • NM_018136.5:c.1138C>T
  • NP_001193775.1:p.Gln380Ter
  • NC_000001.11:g.197143114G>A
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

157777

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