NM_000546.6(TP53):c.672+1G>A AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Pathogenic/Likely pathogenic (3 submissions)
- Last evaluated:
- Dec 5, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002288814.5
Allele description [Variation Report for NM_000546.6(TP53):c.672+1G>A]
NM_000546.6(TP53):c.672+1G>A
Condition(s)
- Name:
- Hereditary cancer-predisposing syndrome
- Synonyms:
- Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672
-
PNMA2 PNMA family member 2 [Homo sapiens]
PNMA2 PNMA family member 2 [Homo sapiens]Gene ID:10687Gene
-
10687[uid] AND (alive[prop]) (1)
Gene
-
RecName: Full=Paraneoplastic antigen Ma2; AltName: Full=40 kDa neuronal protein;...
RecName: Full=Paraneoplastic antigen Ma2; AltName: Full=40 kDa neuronal protein; AltName: Full=Onconeuronal antigen Ma2; AltName: Full=Paraneoplastic neuronal antigen MM2gi|37999812|sp|Q9UL42.2|PNMA2_HUMANProtein
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See more...Assertion and evidence details
Last Updated: Aug 11, 2024