NM_000548.5(TSC2):c.4432G>A (p.Asp1478Asn) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 20, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002331192.10
Allele description [Variation Report for NM_000548.5(TSC2):c.4432G>A (p.Asp1478Asn)]
NM_000548.5(TSC2):c.4432G>A (p.Asp1478Asn)
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=Collagen alpha-3(IV) chain
RecName: Full=Collagen alpha-3(IV) chaingi|2493782|sp|Q28084.1|CO4A3_BOVINProtein
-
404704[uid] AND (alive[prop]) (1)
Gene
-
CD4 CD4 molecule [Sus scrofa]
CD4 CD4 molecule [Sus scrofa]Gene ID:404704Gene
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024