NM_005120.3(MED12):c.4336G>T (p.Ala1446Ser) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 29, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004519308.1
Allele description [Variation Report for NM_005120.3(MED12):c.4336G>T (p.Ala1446Ser)]
NM_005120.3(MED12):c.4336G>T (p.Ala1446Ser)
Condition(s)
-
C. diphtheriae delta-rnj2 Rep 1
C. diphtheriae delta-rnj2 Rep 1biosample
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See more...Assertion and evidence details
Last Updated: May 7, 2024