NM_000264.5(PTCH1):c.1407G>A (p.Val469=) AND Gorlin syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 19, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001502069.6
Allele description [Variation Report for NM_000264.5(PTCH1):c.1407G>A (p.Val469=)]
NM_000264.5(PTCH1):c.1407G>A (p.Val469=)
Condition(s)
- Name:
- Gorlin syndrome
- Synonyms:
- Gorlin-Goltz Syndrome; Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies; Fifth Phacomatosis; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007187; MedGen: C0004779; Orphanet: 377; OMIM: PS109400
Assertion and evidence details
Last Updated: Feb 28, 2024