NM_000138.5(FBN1):c.4163G>A (p.Arg1388His) AND Isolated thoracic aortic aneurysm
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 1, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001374761.1
Allele description [Variation Report for NM_000138.5(FBN1):c.4163G>A (p.Arg1388His)]
NM_000138.5(FBN1):c.4163G>A (p.Arg1388His)
Condition(s)
- Name:
- Isolated thoracic aortic aneurysm
- Identifiers:
-
Apeiba petoumo (0)
NLM Catalog
-
69_D4
69_D4biosample
-
C8orf76 protein [Homo sapiens]
C8orf76 protein [Homo sapiens]gi|15214512|gb|AAH12379.1|Protein
-
Streptomyces anulatus strain NBC_01523 plasmid unnamed1, complete sequence
Streptomyces anulatus strain NBC_01523 plasmid unnamed1, complete sequencegi|2656474646|gb|CP109401.1|Nucleotide
-
Streptomyces sp. NBC_01508 chromosome, complete genome
Streptomyces sp. NBC_01508 chromosome, complete genomegi|2656536241|gb|CP109419.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024