chr17:48273524:C>T Detail (hg19) (COL1A1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:48,273,524-48,273,524 |
| hg38 | chr17:50,196,163-50,196,163 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000088.3:c.994G>A | NP_000079.2:p.Gly332Arg |
| Ensemble | ENST00000225964.10:c.994G>A | ENST00000225964.10:p.Gly332Arg |
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
|
1996-01-11 | no assertion criteria provided | Osteogenesis imperfecta type III |
germline
|
Detail |
|
Pathogenic
|
2011-08-18 | criteria provided, single submitter | osteogenesis imperfecta |
germline
|
Detail |
|
Pathogenic
|
2023-04-28 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Pathogenic
|
2022-09-01 | criteria provided, single submitter | Osteogenesis imperfecta with normal sclerae, dominant form |
germline
unknown
|
Detail |
|
Pathogenic
|
2023-05-05 | criteria provided, single submitter | Osteogenesis imperfecta type I |
germline
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | 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 |
unknown
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | 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 |
unknown
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | 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 |
unknown
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | 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 |
unknown
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | 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 |
unknown
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | 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 |
unknown
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | 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 |
unknown
|
Detail |
|
Pathogenic
|
2023-08-14 | criteria provided, single submitter | COL1A1-related disorder |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.316 | osteogenesis imperfecta | NA | CLINVAR | Detail | |
| 0.562 | Osteogenesis imperfecta type III (disorder) | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000088.4(COL1A1):c.994G>A (p.Gly332Arg) AND Osteogenesis imperfecta type III | ClinVar | Detail |
| NM_000088.4(COL1A1):c.994G>A (p.Gly332Arg) AND Osteogenesis imperfecta | ClinVar | Detail |
| NM_000088.4(COL1A1):c.994G>A (p.Gly332Arg) AND not provided | ClinVar | Detail |
| NM_000088.4(COL1A1):c.994G>A (p.Gly332Arg) AND Osteogenesis imperfecta with normal sclerae, dominant... | ClinVar | Detail |
| NM_000088.4(COL1A1):c.994G>A (p.Gly332Arg) AND Osteogenesis imperfecta type I | ClinVar | Detail |
| NM_000088.4(COL1A1):c.994G>A (p.Gly332Arg) AND multiple conditions | ClinVar | Detail |
| NM_000088.4(COL1A1):c.994G>A (p.Gly332Arg) AND multiple conditions | ClinVar | Detail |
| NM_000088.4(COL1A1):c.994G>A (p.Gly332Arg) AND multiple conditions | ClinVar | Detail |
| NM_000088.4(COL1A1):c.994G>A (p.Gly332Arg) AND multiple conditions | ClinVar | Detail |
| NM_000088.4(COL1A1):c.994G>A (p.Gly332Arg) AND multiple conditions | ClinVar | Detail |
| NM_000088.4(COL1A1):c.994G>A (p.Gly332Arg) AND multiple conditions | ClinVar | Detail |
| NM_000088.4(COL1A1):c.994G>A (p.Gly332Arg) AND multiple conditions | ClinVar | Detail |
| NM_000088.4(COL1A1):c.994G>A (p.Gly332Arg) AND COL1A1-related disorder | ClinVar | Detail |
| NA | DisGeNET | Detail |
| NA | 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
- rs72645357 dbSNP
- Genome
- hg19
- Position
- chr17:48,273,524-48,273,524
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser