NM_032504.1:c.520C>T

HGVS Expressions

  • NG_051361.1:g.10555C>T
  • NM_032504.1:c.520C>T
  • NP_115893.1:p.Arg174Ter
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Genomic Location

chr2:209777479

Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

684713

Epidemiology in the Arab World

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