NM_004612.4(TGFBR1):c.*2100T>G AND Loeys-Dietz syndrome 1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000392302.5
Allele description [Variation Report for NM_004612.4(TGFBR1):c.*2100T>G]
NM_004612.4(TGFBR1):c.*2100T>G
Condition(s)
- Name:
- Loeys-Dietz syndrome 1 (LDS1)
- Synonyms:
- Loeys-Dietz syndrome type 1A; Furlong syndrome; Aortic aneurysm syndrome, Loeys-Dietz type; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012212; MedGen: C4551955; Orphanet: 60030; OMIM: 609192
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RecName: Full=Putative uncharacterized protein encoded by ZNF503-AS2; AltName: F...
RecName: Full=Putative uncharacterized protein encoded by ZNF503-AS2; AltName: Full=ZNF503 antisense RNA 2gi|167008632|sp|A6NEH8.1|ZNAS2_HUMAProtein
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Taxonomy Links for Nucleotide (Select 1929307923) (1)
Taxonomy
-
Profile neighbors for GEO Profiles (Select 131090253) (200)
GEO Profiles
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Cucumis sativus cultivar 9930 scaffold117, whole genome shotgun sequence
Cucumis sativus cultivar 9930 scaffold117, whole genome shotgun sequencegi|1775807338|gb|ACHR03000013.1||gn :ACHR03|scaffold117Nucleotide
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txid72036[orgn] AND "isolate LsRF12"[All Fields] (4)
Nucleotide
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See more...Assertion and evidence details
Last Updated: May 12, 2024