NM_005359.6(SMAD4):c.1004T>G (p.Val335Gly) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 12, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002407588.2
Allele description [Variation Report for NM_005359.6(SMAD4):c.1004T>G (p.Val335Gly)]
NM_005359.6(SMAD4):c.1004T>G (p.Val335Gly)
Condition(s)
- Name:
- Familial thoracic aortic aneurysm and aortic dissection (TAAD)
- Synonyms:
- Thoracic aortic aneurysm and aortic dissection; Thoracic aortic aneurysms and dissections
- Identifiers:
- MONDO: MONDO:0019625; MedGen: C4707243; Orphanet: 91387; OMIM: PS607086
- 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 BRCA1 DNA repair associated (BRCA1), transcript variant 4, mRNA
Homo sapiens BRCA1 DNA repair associated (BRCA1), transcript variant 4, mRNAgi|237681122|ref|NM_007298.3|Nucleotide
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See more...Assertion and evidence details
Last Updated: Jun 9, 2024