NM_000138.5(FBN1):c.8502T>C (p.Thr2834=) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Conflicting interpretations of pathogenicity (3 submissions)
- Last evaluated:
- Mar 8, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000251299.21
Allele description [Variation Report for NM_000138.5(FBN1):c.8502T>C (p.Thr2834=)]
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=)
Condition(s)
-
Rattus norvegicus translocase of inner mitochondrial membrane 8 homolog B (Timm8...
Rattus norvegicus translocase of inner mitochondrial membrane 8 homolog B (Timm8b), mRNA; nuclear gene for mitochondrial productgi|160333485|ref|NM_022541.2|Nucleotide
-
Mus musculus mitochondrial ribosomal protein L48 (Mrpl48), transcript variant 1,...
Mus musculus mitochondrial ribosomal protein L48 (Mrpl48), transcript variant 1, mRNAgi|1337002834|ref|NM_198831.3|Nucleotide
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Last Updated: Oct 26, 2024