NM_148897.2:c.599T>C

HGVS Expressions

  • NM_148897.2:c.599T>C
  • NP_683695.1:p.Ile200Thr
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Genomic Location

chr12:56929515

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

430711

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