Annotation Detail
Information
- Associated Genes
- COL1A1
- Associated Variants
-
COL1A1 p.Arg1026Ter (p.R1026*)
(
ENST00000225964.10 )
COL1A1 p.Arg1026Ter (p.R1026*) ( ENST00000225964.10 ) - Associated Disease
- Osteogenesis imperfecta, perinatal lethal Osteogenesis imperfecta type III Osteogenesis imperfecta with normal sclerae, dominant form Infantile cortical hyperostosis Ehlers-Danlos syndrome, arthrochalasia type Osteogenesis imperfecta type I osteoporosis Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
- Source Database
- ClinVar
- Description
- NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter) AND multiple conditions
- ClinVar Allele ID
- 44584
- ClinVar RefSeq Alternation Syntax
- NM_000088.4:c.3076C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-05-05
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002504826
- ClinVar Disease
- Osteoporosis
- ClinVar Disease
- Osteogenesis imperfecta type I
- ClinVar Disease
- Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
- ClinVar Disease
- Osteogenesis imperfecta with normal sclerae, dominant form
- ClinVar Disease
- Ehlers-Danlos syndrome, arthrochalasia type
- ClinVar Disease
- Osteogenesis imperfecta type III
- ClinVar Disease
- Osteogenesis imperfecta, perinatal lethal
- ClinVar Disease
- Infantile cortical hyperostosis
- Observed Origin Sample
- unknown
Drugs