K39* (p.Lys39Ter) variant of DYSF (Dysferlin)
K39* (p.Lys39Ter) in DYSF (Dysferlin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
K39* (p.Lys39Ter) variant details
- p.Lys39Ter
- rs2082829594
- ClinGen CA347216014
- ClinVar RCV001264239
- Ensembl rs2082829594
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Dysferlinopathy. (PMID 20301480)
- Cited in: Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies [RETIRED]: report of… (PMID 25313375)