NM_003242.6(TGFBR2):c.1167C>T (p.Asn389=) AND Thoracic aortic aneurysm
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Sep 23, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003148641.2
Allele description [Variation Report for NM_003242.6(TGFBR2):c.1167C>T (p.Asn389=)]
NM_003242.6(TGFBR2):c.1167C>T (p.Asn389=)
Condition(s)
- Name:
- Thoracic aortic aneurysm
- Synonyms:
- Aneurysm of thoracic aorta
- Identifiers:
- MONDO: MONDO:0005396; MedGen: C0162872; Human Phenotype Ontology: HP:0012727
-
complex III assembly factor LYRM7 [Mus musculus]
complex III assembly factor LYRM7 [Mus musculus]gi|158854009|ref|NP_083603.2|Protein
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Last Updated: Sep 29, 2024