NM_023110.3(FGFR1):c.1966A>G (p.Lys656Glu) AND Medulloblastoma
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- May 31, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000441552.1
Allele description [Variation Report for NM_023110.3(FGFR1):c.1966A>G (p.Lys656Glu)]
NM_023110.3(FGFR1):c.1966A>G (p.Lys656Glu)
Condition(s)
- 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: Jul 29, 2023