H35Q (p.His35Gln) variant of SUFU (Suppressor of fused homolog)
H35Q (p.His35Gln) in SUFU (Suppressor of fused homolog) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Gorlin syndrome; Medulloblastoma. The record also includes structural context.
H35Q (p.His35Gln) variant details
- p.His35Gln
- ExAC rs756766794
- TOPMed rs756766794
- gnomAD rs756766794
- Uncertain significance
- Gorlin syndrome; Medulloblastoma
- Missense
- ClinVar: Uncertain significance (Gorlin syndrome; Medulloblastoma)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available