NM_001375405.1:c.595G>C

HGVS Expressions

  • NG_042125.1:g.29440G>C
  • NM_001375405.1:c.595G>C
  • NP_001362334.1:p.Ala199Pro
  • NC_000005.10:g.123399153C>G

Associated Genes

Centrosomal Protein 120
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

189370

© CAGS 2024. All rights reserved.