NM_013296.4:c.379C>T

HGVS Expressions

  • NG_028108.2:g.27243C>T
  • NM_013296.4:c.379C>T
  • NP_037428.3:p.Arg127Ter
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Genomic Location

Chr1:108897592

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

1823

Epidemiology in the Arab World

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