NM_001172435.2:c.2011C>T

HGVS Expressions

  • NG_016972.1:g.103192C>T
  • NM_001172435.2:c.2011C>T
  • NP_001165906.1:p.Arg671Ter
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Genomic Location

chr2:135150456

Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

7059

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