NM_139176.3:c.352+1G>A

HGVS Expressions

  • NG_008056.1:g.11576G>A
  • NM_139176.3:c.352+1G>A
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Genomic Location

chr19:54940930

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

1584

Epidemiology in the Arab World

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