T21I (p.Thr21Ile) variant of SUFU (Suppressor of fused homolog)
T21I (p.Thr21Ile) 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 Medulloblastoma; Gorlin syndrome. The record also includes published literature and structural context.
T21I (p.Thr21Ile) variant details
- p.Thr21Ile
- rs2544830615
- ClinGen CA377886306
- ClinVar RCV003794398
- Uncertain significance
- Medulloblastoma; Gorlin syndrome
- Missense
- ClinVar: Uncertain significance (Medulloblastoma; Gorlin syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Nevoid Basal Cell Carcinoma Syndrome. (PMID 20301330)