D60N (p.Asp60Asn) variant of TTN (Titin)
D60N (p.Asp60Asn) in TTN (Titin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal recessive limb-girdle muscular dystrophy type 2J; Hypertrophic cardiom. The record also includes variant effect predictions and population frequency data.
D60N (p.Asp60Asn) variant details
- p.Asp60Asn
- 1000Genomes rs35683768
- ESP rs35683768
- ExAC rs35683768
- TOPMed rs35683768
- Uncertain significance
- Autosomal recessive limb-girdle muscular dystrophy type 2J; Hypertrophic cardiom
- Missense
- CADD 23.00
- PolyPhen-2 0.11
- ClinVar: Uncertain significance (Autosomal recessive limb-girdle muscular dystrophy type 2J; Hype)
- EBI: Benign (in dbSNP:rs35683768)
- UniProt: Benign (in dbSNP:rs35683768)
- Population evidence available