NM_000138.5(FBN1):c.5788+4C>A AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Mar 7, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000396467.10
Allele description [Variation Report for NM_000138.5(FBN1):c.5788+4C>A]
NM_000138.5(FBN1):c.5788+4C>A
Condition(s)
-
ribosomal protein L32, partial (chloroplast) [Vachellia montana]
ribosomal protein L32, partial (chloroplast) [Vachellia montana]gi|1059939119|gb|AOG21266.1|Protein
-
DIS3L [Ursus maritimus]
DIS3L [Ursus maritimus]Gene ID:103679068Gene
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Last Updated: Oct 8, 2024