NM_000138.5(FBN1):c.306C>T (p.Cys102=) AND Connective tissue disorder
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Jun 1, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000659501.12
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)
- Name:
- Connective tissue disorder
- Synonyms:
- Connective tissue disease
- Identifiers:
- MONDO: MONDO:0003900; MedGen: C0009782
-
PPIA peptidylprolyl isomerase A [Homo sapiens]
PPIA peptidylprolyl isomerase A [Homo sapiens]Gene ID:5478Gene
-
Gene Links for GEO Profiles (Select 60739585) (1)
Gene
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Last Updated: Jun 9, 2024