NM_006949.4:c.1430C>T

HGVS Expressions

  • NG_016709.1:g.14218C>T
  • NM_006949.4:c.1430C>T
  • NP_008880.2:p.Pro477Leu
  • NC_000019.10:g.7646322C>T
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

7858

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