chr17:50193003:A> Detail (hg38) (COL1A1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:48,270,364-48,270,364 |
| hg38 | chr17:50,193,003-50,193,003 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000088.3:c.1812delT | NP_000079.2:p.Gly605AlafsTer161 |
| Ensemble | ENST00000225964.10:c.1812delT | ENST00000225964.10:p.Gly605AlafsTer161 |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2011-08-18 | criteria provided, single submitter | osteogenesis imperfecta |
germline
|
Detail |
|
Pathogenic
Likely pathogenic
|
2023-03-30 | criteria provided, multiple submitters, no conflicts | Osteogenesis imperfecta type I |
germline
|
Detail |
|
Pathogenic
|
2021-05-06 | criteria provided, single submitter | Osteogenesis imperfecta type III |
germline
|
Detail |
|
Pathogenic
|
2022-11-07 | 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 |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000088.4(COL1A1):c.1812del (p.Gly605fs) AND Osteogenesis imperfecta | ClinVar | Detail |
| NM_000088.4(COL1A1):c.1812del (p.Gly605fs) AND Osteogenesis imperfecta type I | ClinVar | Detail |
| NM_000088.4(COL1A1):c.1812del (p.Gly605fs) AND Osteogenesis imperfecta type III | ClinVar | Detail |
| NM_000088.4(COL1A1):c.1812del (p.Gly605fs) AND COL1A1-related disorder | ClinVar | 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
- rs193922143 dbSNP
- Genome
- hg38
- Position
- chr17:50,193,003-50,193,003
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- -
Genome browser