NM_001613.4(ACTA2):c.138G>T (p.Met46Ile) AND Aortic aneurysm, familial thoracic 6
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000822015.9
Allele description [Variation Report for NM_001613.4(ACTA2):c.138G>T (p.Met46Ile)]
NM_001613.4(ACTA2):c.138G>T (p.Met46Ile)
Condition(s)
-
Synthetic construct Mus musculus amidohydrolase domain containing 2, mRNA (cDNA ...
Synthetic construct Mus musculus amidohydrolase domain containing 2, mRNA (cDNA clone MGC:47163 IMAGE:5101453), complete cdsgi|22477713|gb|BC037005.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 8, 2024