NM_004612.4(TGFBR1):c.923C>T (p.Ser308Phe) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 9, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000694696.6
Allele description [Variation Report for NM_004612.4(TGFBR1):c.923C>T (p.Ser308Phe)]
NM_004612.4(TGFBR1):c.923C>T (p.Ser308Phe)
Condition(s)
-
Mus musculus splicing regulatory glutamine/lysine-rich protein 1interacting prot...
Mus musculus splicing regulatory glutamine/lysine-rich protein 1interacting protein 1 (Srek1ip1), transcript variant 1, mRNAgi|1001184322|ref|NM_026075.3|Nucleotide
-
PIK3CD [Pan paniscus]
PIK3CD [Pan paniscus]Gene ID:100989732Gene
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Last Updated: Feb 20, 2024