NM_000088.4(COL1A1):c.1056+12dup AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 21, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002489163.1
Allele description [Variation Report for NM_000088.4(COL1A1):c.1056+12dup]
NM_000088.4(COL1A1):c.1056+12dup
Condition(s)
- Name:
- Osteogenesis imperfecta with normal sclerae, dominant form (OI4)
- Synonyms:
- Osteogenesis imperfecta type 4; OI type 4; Osteogenesis imperfecta with normal sclerae; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008148; MedGen: C0268363; Orphanet: 666; OMIM: 166220
- Name:
- Osteogenesis imperfecta, perinatal lethal (OI2)
- Synonyms:
- OI, TYPE II; Osteogenesis imperfecta congenita perinatal lethal form; Osteogenesis imperfecta congenita; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008147; MedGen: C0268358; OMIM: 166210
- Name:
- Osteogenesis imperfecta type III (OI3)
- Synonyms:
- Osteogenesis imperfecta type 3; OI type 3; Osteogenesis imperfecta, progressively deforming with normal sclerae; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009804; MedGen: C0268362; Orphanet: 666; OMIM: 259420
- Name:
- Infantile cortical hyperostosis
- Synonyms:
- Hyperostosis, Cortical, Congenital; P1PK BLOOD GROUP SYSTEM, P(2) PHENOTYPE; Caffey Disease
- Identifiers:
- MONDO: MONDO:0007244; MedGen: C0020497; Orphanet: 1310; OMIM: 114000
- Name:
- Ehlers-Danlos syndrome, arthrochalasia type
- Synonyms:
- EDS VII, MUTANT PROCOLLAGEN TYPE; EDS VIIA; Arthrochalasis multiplex congenita; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007525; MedGen: C4551623; Orphanet: 1899; Orphanet: 99875; Orphanet: 99876; OMIM: 130060
- Name:
- Osteogenesis imperfecta type I (OI1)
- Synonyms:
- OI, TYPE I; Osteogenesis imperfecta type 1; OI type 1; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008146; MedGen: C0023931; Orphanet: 666; OMIM: 166200
- Name:
- Osteoporosis
- Identifiers:
- MONDO: MONDO:0005298; MedGen: C0029456; OMIM: 166710; Human Phenotype Ontology: HP:0000939
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Human guanine nucleotide-binding regulatory protein (G-y-alpha) mRNA, complete c...
Human guanine nucleotide-binding regulatory protein (G-y-alpha) mRNA, complete cdsgi|183690|gb|M69013.1|HUMGTPBRPANucleotide
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Last Updated: Jun 9, 2024