NM_001042545.2(LTBP4):c.4628C>T (p.Pro1543Leu) AND Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 20, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004720604.1
Allele description [Variation Report for NM_001042545.2(LTBP4):c.4628C>T (p.Pro1543Leu)]
NM_001042545.2(LTBP4):c.4628C>T (p.Pro1543Leu)
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
-
PREDICTED: Homo sapiens nebulin (NEB), transcript variant X25, mRNA
PREDICTED: Homo sapiens nebulin (NEB), transcript variant X25, mRNAgi|2217328283|ref|XM_005246610.3|Nucleotide
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Last Updated: Oct 8, 2024