NM_000546.6(TP53):c.932A>G (p.Asn311Ser) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Conflicting interpretations of pathogenicity (3 submissions)
- Last evaluated:
- Feb 3, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001805064.7
Allele description [Variation Report for NM_000546.6(TP53):c.932A>G (p.Asn311Ser)]
NM_000546.6(TP53):c.932A>G (p.Asn311Ser)
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
-
Homo sapiens phosphoinositide kinase, FYVE-type zinc finger containing (PIKFYVE)...
Homo sapiens phosphoinositide kinase, FYVE-type zinc finger containing (PIKFYVE), transcript variant 3, mRNAgi|1890341924|ref|NM_152671.4|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024