Annotation Detail
Information
- Associated Genes
- COL1A1
- Associated Variants
-
COL1A1 p.Arg1026Ter (p.R1026*)
(
ENST00000225964.10 )
COL1A1 p.Arg1026Ter (p.R1026*) ( ENST00000225964.10 ) - Associated Disease
- Ehlers-Danlos syndrome, arthrochalasia type osteogenesis imperfecta Infantile cortical hyperostosis
- 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
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001535575
- ClinVar Disease
- Osteogenesis imperfecta
- ClinVar Disease
- Ehlers-Danlos syndrome, arthrochalasia type
- ClinVar Disease
- Infantile cortical hyperostosis
- Observed Origin Sample
- unknown
Drugs