NM_001211.6:c.2441G>A

HGVS Expressions

  • NG_016338.1:g.56546G>A
  • NM_001211.6:c.2441G>A
  • NP_001202.5:p.Arg814His
  • NC_000015.10:g.40212554G>A
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Benign

Variant Type

Substitution

Clinvar

6764

Epidemiology in the Arab World

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