S28A (p.Ser28Ala) variant of SUFU (Suppressor of fused homolog)
S28A (p.Ser28Ala) 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.
S28A (p.Ser28Ala) variant details
- p.Ser28Ala
- rs2544830892
- ClinGen CA377886392
- ClinVar RCV002574855
- 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)