NM_001010874.5:c.331+1G>A

HGVS Expressions

  • NG_053152.1:g.85999G>A
  • NM_001010874.5:c.331+1G>A
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Genomic Location

chr4:64328511

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

372283

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