NM_005902.4(SMAD3):c.1132A>G (p.Lys378Glu) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 8, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001799325.2
Allele description [Variation Report for NM_005902.4(SMAD3):c.1132A>G (p.Lys378Glu)]
NM_005902.4(SMAD3):c.1132A>G (p.Lys378Glu)
Condition(s)
-
Tmc7 transmembrane channel-like gene family 7 [Mus musculus]
Tmc7 transmembrane channel-like gene family 7 [Mus musculus]Gene ID:209760Gene
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023