NM_016069.10:c.226A>G

HGVS Expressions

  • NG_054893.1:g.15388A>G
  • NM_016069.10:c.226A>G
  • NP_057153.8:p.Asn76Asp
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Genomic Location

Chr16:4340985

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

187811

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