NM_000090.4(COL3A1):c.121G>T (p.Asp41Tyr) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 2, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001185489.12
Allele description [Variation Report for NM_000090.4(COL3A1):c.121G>T (p.Asp41Tyr)]
NM_000090.4(COL3A1):c.121G>T (p.Asp41Tyr)
Condition(s)
-
Homo sapiens vacuolar protein sorting 4B (yeast) (VPS4B), mRNA
Homo sapiens vacuolar protein sorting 4B (yeast) (VPS4B), mRNAgi|17865801|ref|NM_004869.2|Nucleotide
-
cell division cycle 25C protein isoform a [Homo sapiens]
cell division cycle 25C protein isoform a [Homo sapiens]gi|4502707|ref|NP_001781.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 8, 2024