NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) AND Transitional cell carcinoma of the bladder
- 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:
- RCV000436486.3
Allele description [Variation Report for NM_000546.6(TP53):c.659A>C (p.Tyr220Ser)]
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser)
Condition(s)
- Name:
- Transitional cell carcinoma of the bladder
- Identifiers:
- MONDO: MONDO:0005611; MedGen: C0279680; Human Phenotype Ontology: HP:0006740
-
RecName: Full=Protein phosphatase 1A; AltName: Full=Protein phosphatase 2C isofo...
RecName: Full=Protein phosphatase 1A; AltName: Full=Protein phosphatase 2C isoform alpha; Short=PP2C-alpha; AltName: Full=Protein phosphatase IAgi|548442|sp|P35813.1|PPM1A_HUMANProtein
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See more...Assertion and evidence details
Last Updated: Jul 15, 2024