NM_005359.6(SMAD4):c.181A>G (p.Ile61Val) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 7, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002413323.2
Allele description [Variation Report for NM_005359.6(SMAD4):c.181A>G (p.Ile61Val)]
NM_005359.6(SMAD4):c.181A>G (p.Ile61Val)
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
-
serine/threonine-protein kinase PAK 1 isoform 2 [Homo sapiens]
serine/threonine-protein kinase PAK 1 isoform 2 [Homo sapiens]gi|1774959468|ref|NP_001363203.1|Protein
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RecName: Full=Nuclear receptor-binding protein 2; AltName: Full=Transformation-r...
RecName: Full=Nuclear receptor-binding protein 2; AltName: Full=Transformation-related gene 16 protein; Short=TRG-16gi|298286835|sp|Q9NSY0.2|NRBP2_HUMAProtein
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CBXT3649.b1 NICHD_XGC_trop_25 Xenopus tropicalis cDNA clone IMAGE:8885452 5', mR...
CBXT3649.b1 NICHD_XGC_trop_25 Xenopus tropicalis cDNA clone IMAGE:8885452 5', mRNA sequencegi|133807648|gnl|dbEST|45237255|gb| 295.1|Nucleotide
-
DC139815 Xenopus tropicalis embryo gastrula Xenopus tropicalis cDNA clone rst24a...
DC139815 Xenopus tropicalis embryo gastrula Xenopus tropicalis cDNA clone rst24a10 3', mRNA sequencegi|119051068|gnl|dbEST|43322745|dbj 9815.1|Nucleotide
-
BJ642234 NIBB Mochii normalized Xenopus early gastrula library Xenopus laevis cD...
BJ642234 NIBB Mochii normalized Xenopus early gastrula library Xenopus laevis cDNA clone XL212m15 3', mRNA sequencegi|37506766|gnl|dbEST|19980905|dbj| 234.1|Nucleotide
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Last Updated: Jun 17, 2024