NM_000138.5(FBN1):c.2927G>A (p.Arg976His) AND Connective tissue disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 1, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002277119.10
Allele description [Variation Report for NM_000138.5(FBN1):c.2927G>A (p.Arg976His)]
NM_000138.5(FBN1):c.2927G>A (p.Arg976His)
Condition(s)
- Name:
- Connective tissue disorder
- Synonyms:
- Connective tissue disease
- Identifiers:
- MONDO: MONDO:0003900; MedGen: C0009782
-
hypothetical protein GCK72_024643 [Caenorhabditis remanei]
hypothetical protein GCK72_024643 [Caenorhabditis remanei]gi|2445394432|ref|XP_053579540.1|Protein
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Last Updated: Oct 13, 2024