NM_000546.6(TP53):c.814G>A (p.Val272Met) 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:
- RCV000436602.3
Allele description [Variation Report for NM_000546.6(TP53):c.814G>A (p.Val272Met)]
NM_000546.6(TP53):c.814G>A (p.Val272Met)
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
-
Or51m1 olfactory receptor family 51 subfamily M member 1 [Mus musculus]
Or51m1 olfactory receptor family 51 subfamily M member 1 [Mus musculus]Gene ID:258961Gene
-
MOR3-1 AND (alive[prop]) (1)
Gene
-
AGENCOURT_13351768 NICHD_XGC_Tad1 Xenopus laevis cDNA clone IMAGE:6877789 3', mR...
AGENCOURT_13351768 NICHD_XGC_Tad1 Xenopus laevis cDNA clone IMAGE:6877789 3', mRNA sequencegi|29479924|gnl|dbEST|17305476|gb|C 94.1|Nucleotide
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Last Updated: Oct 20, 2024