NM_002335.4(LRP5):c.3919C>T (p.Arg1307Trp) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 28, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002491642.1
Allele description [Variation Report for NM_002335.4(LRP5):c.3919C>T (p.Arg1307Trp)]
NM_002335.4(LRP5):c.3919C>T (p.Arg1307Trp)
Condition(s)
- Name:
- Bone mineral density quantitative trait locus 1 (BMND1)
- Identifiers:
- MedGen: C1866079; OMIM: 601884
- Name:
- Exudative vitreoretinopathy 4 (EVR4)
- Identifiers:
- MONDO: MONDO:0011151; MedGen: C1866176; Orphanet: 891; OMIM: 601813
- Name:
- Exudative vitreoretinopathy 1 (EVR1)
- Synonyms:
- Criswick-Schepens syndrome; FEVR, AUTOSOMAL DOMINANT; Familial exudative vitreoretinopathy, autosomal dominant
- Identifiers:
- MONDO: MONDO:0007589; MedGen: C1851402; Orphanet: 891; Orphanet: 90050; OMIM: 133780
- Name:
- Worth disease
- Synonyms:
- Osteosclerosis, autosomal dominant; Endosteal hyperostosis, autosomal dominant; Endosteal hyperostosis, Worth type; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007764; MedGen: C0432273; OMIM: 144750
- Name:
- Autosomal dominant osteopetrosis 1 (OPTA1)
- Synonyms:
- OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE I
- Identifiers:
- MONDO: MONDO:0011877; MedGen: C1843330; Orphanet: 2783; OMIM: 607634
- Name:
- Osteoporosis with pseudoglioma (OPPG)
- Synonyms:
- Osteogenesis imperfecta ocular form; Pseudoglioma with bone fragility
- Identifiers:
- MONDO: MONDO:0009820; MedGen: C0432252; Orphanet: 2788; OMIM: 259770
- Name:
- Osteoporosis
- Identifiers:
- MONDO: MONDO:0005298; MedGen: C0029456; OMIM: 166710; Human Phenotype Ontology: HP:0000939
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dars1.L aspartyl-tRNA synthetase 1 L homeolog [Xenopus laevis]
dars1.L aspartyl-tRNA synthetase 1 L homeolog [Xenopus laevis]Gene ID:443916Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024