NM_003072.5(SMARCA4):c.1212C>G (p.Leu404=) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 7, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000567253.3
Allele description [Variation Report for NM_003072.5(SMARCA4):c.1212C>G (p.Leu404=)]
NM_003072.5(SMARCA4):c.1212C>G (p.Leu404=)
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
-
PREDICTED: Canis lupus familiaris aftiphilin (AFTPH), transcript variant X3, mRN...
PREDICTED: Canis lupus familiaris aftiphilin (AFTPH), transcript variant X3, mRNAgi|1952673858|ref|XM_022424815.2|Nucleotide
-
Tssr89346 AND (alive[prop]) (0)
Gene
-
Rattus norvegicus trichoplein, keratin filament binding (Tchp), mRNA
Rattus norvegicus trichoplein, keratin filament binding (Tchp), mRNAgi|300793995|ref|NM_001191666.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 19, 2024