NM_003114.5:c.742C>T

HGVS Expressions

  • NG_033834.2:g.34126C>T
  • NM_003114.5:c.742C>T
  • NP_003105.2:p.Arg248Ter
  • NC_000008.11:g.100187160C>T
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

1323638

Epidemiology in the Arab World

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