NM_000243.3:c.2230G>T

HGVS Expressions

  • NG_007871.1:g.18371G>T
  • NM_000243.3:c.2230G>T
  • NP_000234.1:p.Ala744Ser
  • NC_000016.10:g.3243257C>A
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

Clinvar

2548

Epidemiology in the Arab World

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