Annotation Detail
Information
- Associated Genes
- COL1A1
- Associated Variants
-
COL1A1 p.Gly332Arg (p.G332R)
(
ENST00000225964.10 )
COL1A1 p.Gly332Arg (p.G332R) ( ENST00000225964.10 ) - Associated Disease
- Postmenopausal osteoporosis Osteogenesis imperfecta, perinatal lethal Osteogenesis imperfecta with normal sclerae, dominant form Infantile cortical hyperostosis Osteogenesis imperfecta type I Osteogenesis imperfecta type III Ehlers-Danlos syndrome, arthrochalasia type
- Source Database
- ClinVar
- Description
- NM_000088.4(COL1A1):c.994G>A (p.Gly332Arg) AND multiple conditions
- ClinVar Allele ID
- 32351
- ClinVar RefSeq Alternation Syntax
- NM_000088.4:c.994G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2018-10-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000763413
- ClinVar Disease
- Osteogenesis imperfecta type I
- ClinVar Disease
- Osteogenesis imperfecta with normal sclerae, dominant form
- ClinVar Disease
- Ehlers-Danlos syndrome, arthrochalasia type
- ClinVar Disease
- Postmenopausal osteoporosis
- ClinVar Disease
- Osteogenesis imperfecta type III
- ClinVar Disease
- Osteogenesis imperfecta, perinatal lethal
- ClinVar Disease
- Infantile cortical hyperostosis
- Observed Origin Sample
- unknown
Drugs