NM_000497.3:c.1343G>A

HGVS Expressions

  • NG_007954.1:g.9809G>A
  • NM_000497.3:c.1343G>A
  • NP_000488.3:p.Arg448His
Back to search Result
Genomic Location

chr8:142875012

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

1171

© CAGS 2024. All rights reserved.