K36N (p.Lys36Asn) variant of DYSF (Dysferlin)
K36N (p.Lys36Asn) in DYSF (Dysferlin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
K36N (p.Lys36Asn) variant details
- p.Lys36Asn
- TOPMed rs1316230143
- gnomAD rs1316230143
- NCI-TCGA TCGA novel
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available