NM_000138.5(FBN1):c.306C>T (p.Cys102=) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Benign/Likely benign (4 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:
- RCV000253616.20
Allele description [Variation Report for NM_000138.5(FBN1):c.306C>T (p.Cys102=)]
NM_000138.5(FBN1):c.306C>T (p.Cys102=)
Condition(s)
-
Acetobacter papayae strain LMG 27040 heat shock protein 60 (groEL) gene, partial...
Acetobacter papayae strain LMG 27040 heat shock protein 60 (groEL) gene, partial cdsgi|589060613|gb|KF537443.1|Nucleotide
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tRNA N(3)-methylcytidine methyltransferase METTL8, mitochondrial isoform 6 [Homo...
tRNA N(3)-methylcytidine methyltransferase METTL8, mitochondrial isoform 6 [Homo sapiens]gi|1007380412|ref|NP_001308090.1|Protein
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Last Updated: Oct 26, 2024