chr17:48266126:G>A Detail (hg19) (COL1A1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:48,266,126-48,266,126 |
| hg38 | chr17:50,188,765-50,188,765 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000088.3:c.3076C>T | NP_000079.2:p.Arg1026Ter |
| Ensemble | ENST00000225964.10:c.3076C>T | ENST00000225964.10:p.Arg1026Ter |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2018-08-01 | criteria provided, multiple submitters, no conflicts | osteogenesis imperfecta |
germline
|
Detail |
|
Pathogenic
|
2023-10-01 | criteria provided, multiple submitters, no conflicts | not provided |
germline
unknown
|
Detail |
|
Pathogenic
|
2024-01-15 | criteria provided, single submitter | Osteogenesis imperfecta type I |
germline
|
Detail |
not provided
|
no assertion provided | Ehlers-Danlos syndrome, arthrochalasia type,osteogenesis imperfecta,Infantile cortical hyperostosis |
unknown
|
Detail | |
|
not provided
|
no assertion provided | Ehlers-Danlos syndrome, arthrochalasia type,osteogenesis imperfecta,Infantile cortical hyperostosis |
unknown
|
Detail | |
|
not provided
|
no assertion provided | Ehlers-Danlos syndrome, arthrochalasia type,osteogenesis imperfecta,Infantile cortical hyperostosis |
unknown
|
Detail | |
|
Pathogenic
|
2021-07-10 | criteria provided, single submitter |
germline
|
Detail | |
|
Pathogenic
|
2022-05-05 | criteria provided, single submitter | 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 |
unknown
|
Detail |
|
Pathogenic
|
2022-05-05 | criteria provided, single submitter | 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 |
unknown
|
Detail |
|
Pathogenic
|
2022-05-05 | criteria provided, single submitter | 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 |
unknown
|
Detail |
|
Pathogenic
|
2022-05-05 | criteria provided, single submitter | 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 |
unknown
|
Detail |
|
Pathogenic
|
2022-05-05 | criteria provided, single submitter | 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 |
unknown
|
Detail |
|
Pathogenic
|
2022-05-05 | criteria provided, single submitter | 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 |
unknown
|
Detail |
|
Pathogenic
|
2022-05-05 | criteria provided, single submitter | 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 |
unknown
|
Detail |
|
Pathogenic
|
2022-05-05 | criteria provided, single submitter | 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 |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.316 | osteogenesis imperfecta | NA | CLINVAR | Detail | |
| 0.328 | Lobstein's Disease | Novel COL1A1 gene mutation (R1026X) of type I osteogenesis imperfecta: A first c... | BeFree | 23682531 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter) AND Osteogenesis imperfecta | ClinVar | Detail |
| NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter) AND not provided | ClinVar | Detail |
| NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter) AND Osteogenesis imperfecta type I | ClinVar | Detail |
| NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter) AND multiple conditions | ClinVar | Detail |
| NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter) AND multiple conditions | ClinVar | Detail |
| NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter) AND multiple conditions | ClinVar | Detail |
| NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter) AND Abnormality of the skeletal system | ClinVar | Detail |
| NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter) AND multiple conditions | ClinVar | Detail |
| NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter) AND multiple conditions | ClinVar | Detail |
| NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter) AND multiple conditions | ClinVar | Detail |
| NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter) AND multiple conditions | ClinVar | Detail |
| NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter) AND multiple conditions | ClinVar | Detail |
| NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter) AND multiple conditions | ClinVar | Detail |
| NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter) AND multiple conditions | ClinVar | Detail |
| NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter) AND multiple conditions | ClinVar | Detail |
| NA | DisGeNET | Detail |
| Novel COL1A1 gene mutation (R1026X) of type I osteogenesis imperfecta: A first case report. | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs72653173 dbSNP
- Genome
- hg19
- Position
- chr17:48,266,126-48,266,126
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser