NM_015506.3:c.472T>C

  1. Home
  2. NM_015506.3:c.472T>C

HGVS Expressions

  • NG_013378.1:g.13655T>C
  • NM_015506.3:c.472T>C
  • NP_056321.2:p.Phe158Leu

Associated Genes

Branched-Chain Keto Acid Dehydrogenase E1, Beta Polypeptide
Back to search Result
Genomic Location

chr1:45508838

Clinvar Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

201312386

Clinvar

203830

Contributors

  • Pratibha Nair: 26.04.2020

Edit History

  • Pratibha Nair: 26.04.2020
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.