NM_001042545.2(LTBP4):c.2160T>C (p.Thr720=) AND Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001133093.4
Allele description [Variation Report for NM_001042545.2(LTBP4):c.2160T>C (p.Thr720=)]
NM_001042545.2(LTBP4):c.2160T>C (p.Thr720=)
Condition(s)
- Name:
- Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
- Synonyms:
- URBAN-RIFKIN-DAVIS SYNDROME; Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities; Cutis laxa, autosomal recessive, type IC
- Identifiers:
- MONDO: MONDO:0013170; MedGen: C2750804; Orphanet: 221145; OMIM: 613177
Assertion and evidence details
Last Updated: Feb 28, 2024