NM_000138.5(FBN1):c.1746C>T (p.Cys582=) AND Connective tissue disorder
- Germline classification:
- Benign/Likely benign (2 submissions)
- Last evaluated:
- Dec 20, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000659510.12
Allele description [Variation Report for NM_000138.5(FBN1):c.1746C>T (p.Cys582=)]
NM_000138.5(FBN1):c.1746C>T (p.Cys582=)
Condition(s)
- Name:
- Connective tissue disorder
- Synonyms:
- Connective tissue disease
- Identifiers:
- MONDO: MONDO:0003900; MedGen: C0009782
-
BioSample links for Nucleotide (Select 2128760700) (1)
BioSample
-
Pathogen: clinical or host-associated sample from Psychrobacter sanguinis
Pathogen: clinical or host-associated sample from Psychrobacter sanguinisbiosample
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Last Updated: May 26, 2024