D78N (p.Asp78Asn) variant of HSPG2 (P98160)
D78N (p.Asp78Asn) in HSPG2 (P98160) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided.
D78N (p.Asp78Asn) variant details
- p.Asp78Asn
- TOPMed rs1453245298
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance