NM_016169.4(SUFU):c.1018G>T (p.Ala340Ser) AND multiple conditions
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Feb 1, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001082504.16
Allele description [Variation Report for NM_016169.4(SUFU):c.1018G>T (p.Ala340Ser)]
NM_016169.4(SUFU):c.1018G>T (p.Ala340Ser)
Condition(s)
- Name:
- Gorlin syndrome
- Synonyms:
- Basal cell nevus syndrome
- Identifiers:
- MONDO: MONDO:0007187; MedGen: C0004779; Orphanet: 377; OMIM: PS109400
- Name:
- Medulloblastoma (MDB)
- Synonyms:
- Medulloblastoma, somatic; MEDULLOBLASTOMA PREDISPOSITION SYNDROME
- Identifiers:
- MONDO: MONDO:0007959; MeSH: D008527; MedGen: C0025149; Orphanet: 616; OMIM: 155255; Human Phenotype Ontology: HP:0002885
Assertion and evidence details
Last Updated: Sep 29, 2024