NM_000368.5(TSC1):c.1282_1283delinsCT (p.Ala428Leu) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 1, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003162558.2
Allele description [Variation Report for NM_000368.5(TSC1):c.1282_1283delinsCT (p.Ala428Leu)]
NM_000368.5(TSC1):c.1282_1283delinsCT (p.Ala428Leu)
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
-
phosphatidylcholine:ceramide cholinephosphotransferase 2 isoform X1 [Rattus norv...
phosphatidylcholine:ceramide cholinephosphotransferase 2 isoform X1 [Rattus norvegicus]gi|1046872936|ref|XP_017446423.1|Protein
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PREDICTED: Rattus norvegicus sphingomyelin synthase 2 (Sgms2), transcript varian...
PREDICTED: Rattus norvegicus sphingomyelin synthase 2 (Sgms2), transcript variant X2, mRNAgi|2678918881|ref|XM_039102450.2|Nucleotide
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Last Updated: Sep 29, 2024