NM_005902.4(SMAD3):c.992T>A (p.Val331Asp) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 13, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002315228.9
Allele description [Variation Report for NM_005902.4(SMAD3):c.992T>A (p.Val331Asp)]
NM_005902.4(SMAD3):c.992T>A (p.Val331Asp)
Condition(s)
-
SRX7498908 (1)
SRA
-
Metarhizium sp. QQ-2012 isolate GZASS5.1015 translation elongation factor 1 alph...
Metarhizium sp. QQ-2012 isolate GZASS5.1015 translation elongation factor 1 alpha (EF1alpha) gene, partial cdsgi|388480388|gb|JQ711191.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 26, 2024