NM_003242.6(TGFBR2):c.1189G>T (p.Asp397Tyr) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 21, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000807163.4
Allele description [Variation Report for NM_003242.6(TGFBR2):c.1189G>T (p.Asp397Tyr)]
NM_003242.6(TGFBR2):c.1189G>T (p.Asp397Tyr)
Condition(s)
-
Homo sapiens Smad nuclear interacting protein 1, mRNA (cDNA clone MGC:30036 IMAG...
Homo sapiens Smad nuclear interacting protein 1, mRNA (cDNA clone MGC:30036 IMAGE:4540112), complete cdsgi|20072536|gb|BC027040.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024