NM_080605.4:c.556T>C

HGVS Expressions

  • NG_033265.1:g.5586T>C
  • NM_080605.4:c.556T>C
  • NP_542172.2:p.Phe186Leu
  • NC_000001.11:g.1232834T>C
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

522415

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