NM_000342.4:c.2573C>A

HGVS Expressions

  • NG_007498.1:g.21894C>A
  • NM_000342.4:c.2573C>A
  • NP_000333.1:p.Ala858Asp
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Genomic Location

chr17:44251241

Clinvar Clinical Significance

Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

17771

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