NM_000317.3:c.238A>G

HGVS Expressions

  • NG_008743.1:g.9313A>G
  • NM_000317.3:c.238A>G
  • NP_000308.1:p.Met80Val
  • NC_000011.10:g.112230677A>G
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

372484

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