NM_005359.6(SMAD4):c.191A>G (p.Asn64Ser) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 19, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002411773.3
Allele description [Variation Report for NM_005359.6(SMAD4):c.191A>G (p.Asn64Ser)]
NM_005359.6(SMAD4):c.191A>G (p.Asn64Ser)
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
-
LOC112904642 [Agrilus planipennis]
LOC112904642 [Agrilus planipennis]Gene ID:112904642Gene
-
SGMS1 [Gorilla gorilla gorilla]
SGMS1 [Gorilla gorilla gorilla]Gene ID:101138874Gene
-
PMM2 [Mauremys reevesii]
PMM2 [Mauremys reevesii]Gene ID:120373175Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024