NM_005902.4(SMAD3):c.801G>A (p.Glu267=) AND Aneurysm-osteoarthritis syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004008627.2
Allele description [Variation Report for NM_005902.4(SMAD3):c.801G>A (p.Glu267=)]
NM_005902.4(SMAD3):c.801G>A (p.Glu267=)
Condition(s)
- Name:
- Aneurysm-osteoarthritis syndrome
- Synonyms:
- ANEURYSMS-OSTEOARTHRITIS SYNDROME; LOEYS-DIETZ SYNDROME WITH OSTEOARTHRITIS; Loeys-Dietz syndrome 3; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0013426; MedGen: C3151087; Orphanet: 284984; OMIM: 613795
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txid1521447[orgn] AND "specimen-voucher IDRCG078-13 BRLU NB0590"[... (2)
txid1521447[orgn] AND "specimen-voucher IDRCG078-13 BRLU NB0590"[All Fields]SearchProtein
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Homo sapiens chromosome 12, GRCh38.p14 Primary Assembly
Homo sapiens chromosome 12, GRCh38.p14 Primary Assemblygi|568815586|gnl|ASM:GCF_000001305| f|NC_000012.12||gpp|GPC_000001304.1||gnl|NCBI_GENOMES|12Nucleotide
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Homologene neighbors for GEO Profiles (Select 122086139) (0)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 122074547) (34)
GEO Profiles
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C21orf91-OT1 C21orf91 overlapping transcript 1 [Homo sapiens]
C21orf91-OT1 C21orf91 overlapping transcript 1 [Homo sapiens]Gene ID:246312Gene
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See more...Assertion and evidence details
Last Updated: May 7, 2024