NM_000546.6(TP53):c.651_666del (p.Val218fs) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Jun 18, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000165061.5
Allele description [Variation Report for NM_000546.6(TP53):c.651_666del (p.Val218fs)]
NM_000546.6(TP53):c.651_666del (p.Val218fs)
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
-
RecName: Full=Nuclear GTPase SLIP-GC; AltName: Full=Speckled-like pattern in the...
RecName: Full=Nuclear GTPase SLIP-GC; AltName: Full=Speckled-like pattern in the germinal centergi|292495064|sp|Q68CJ6.3|SLIP_HUMANProtein
-
RecName: Full=DBH-like monooxygenase protein 1; AltName: Full=Monooxygenase X; F...
RecName: Full=DBH-like monooxygenase protein 1; AltName: Full=Monooxygenase X; Flags: Precursorgi|74749373|sp|Q6UVY6.1|MOXD1_HUMANProtein
-
RecName: Full=Short transient receptor potential channel 5; Short=TrpC5; AltName...
RecName: Full=Short transient receptor potential channel 5; Short=TrpC5; AltName: Full=Transient receptor protein 5; Short=TRP-5; Short=hTRP-5; Short=hTRP5gi|10720321|sp|Q9UL62.1|TRPC5_HUMANProtein
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See more...Assertion and evidence details
Last Updated: May 1, 2024