NM_000138.5(FBN1):c.4075A>G (p.Ile1359Val) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 29, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002314353.9
Allele description [Variation Report for NM_000138.5(FBN1):c.4075A>G (p.Ile1359Val)]
NM_000138.5(FBN1):c.4075A>G (p.Ile1359Val)
Condition(s)
-
JGI_XZT40936.rev NIH_XGC_tropTad5 Xenopus tropicalis cDNA clone IMAGE:7616868 3'...
JGI_XZT40936.rev NIH_XGC_tropTad5 Xenopus tropicalis cDNA clone IMAGE:7616868 3', mRNA sequencegi|57129691|gnl|dbEST|26982996|gb|C 32.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Jul 15, 2024