G25D (p.Gly25Asp) variant of PTCH1 (Protein patched homolog 1)
G25D (p.Gly25Asp) in PTCH1 (Protein patched homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Gorlin syndrome. The record also includes published literature and structural context.
G25D (p.Gly25Asp) variant details
- p.Gly25Asp
- rs1843902347
- ClinGen CA916081541
- ClinVar RCV001035899
- ClinVar RCV002379479
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Gorlin syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; 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)