NM_000071.3(CBS):c.1007G>C (p.Arg336Pro) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Aug 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002420789.2
Allele description [Variation Report for NM_000071.3(CBS):c.1007G>C (p.Arg336Pro)]
NM_000071.3(CBS):c.1007G>C (p.Arg336Pro)
Condition(s)
-
plant metagenome
plant metagenomeplant metagenome Raw sequence readsBioProject
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024