T62N (p.Thr62Asn) variant of SPTBN2 (O15020)
T62N (p.Thr62Asn) in SPTBN2 (O15020) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The record also includes structural context.
T62N (p.Thr62Asn) variant details
- p.Thr62Asn
- rs2135526299
- ClinGen CA381484386
- ClinVar RCV001994920
- Ensembl rs2135526299
- Conflicting interpretations
- not provided
- Missense
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available