NM_003480.4(MFAP5):c.2T>C (p.Met1Thr) AND Aortic aneurysm, familial thoracic 9
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 25, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001336040.1
Allele description [Variation Report for NM_003480.4(MFAP5):c.2T>C (p.Met1Thr)]
NM_003480.4(MFAP5):c.2T>C (p.Met1Thr)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024