Y51* (p.Tyr51Ter) variant of TAFAZZIN (Q16635)

Name: TAFAZZIN Y51* (p.Tyr51Ter) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-19
License: https://catvariant.com/terms-of-use

Y51* (p.Tyr51Ter) in TAFAZZIN (Q16635) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.

Y51* (p.Tyr51Ter) variant details

p.Tyr51Ter
rs104894941
ClinGen CA255717
ClinVar RCV000011850
ClinVar RCV001091834
Pathogenic
Stop Gained
EBI: Pathogenic
UniProt: Pathogenic
Structural context available
Cited in: X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update. (PMID 15098233)
Cited in: Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome)… (PMID 1998334)