G30D (p.Gly30Asp) variant of PTCH1 (Protein patched homolog 1)
G30D (p.Gly30Asp) 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. The record also includes published literature and structural context.
G30D (p.Gly30Asp) variant details
- p.Gly30Asp
- rs2538403955
- ClinGen CA374121446
- ClinVar RCV003310899
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)