NM_002354.3:c.492-2A>G

HGVS Expressions

  • NG_012352.2:g.36850A>G
  • NM_002354.3:c.492-2A>G
  • NC_000002.12:g.47377012A>G
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

157604

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