chr17:48265980:C>T Detail (hg19) (COL1A1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:48,265,980-48,265,980 |
| hg38 | chr17:50,188,619-50,188,619 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000088.3:c.3118G>A | NP_000079.2:p.Gly1040Ser |
| Ensemble | ENST00000225964.10:c.3118G>A | ENST00000225964.10:p.Gly1040Ser |
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
|
2022-05-22 | criteria provided, single submitter | Osteogenesis imperfecta type III |
germline
unknown
|
Detail |
|
Pathogenic
|
2023-01-10 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Pathogenic
|
2023-10-17 | criteria provided, multiple submitters, no conflicts | Osteogenesis imperfecta type I |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.562 | Osteogenesis imperfecta type III (disorder) | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000088.4(COL1A1):c.3118G>A (p.Gly1040Ser) AND Osteogenesis imperfecta type III | ClinVar | Detail |
| NM_000088.4(COL1A1):c.3118G>A (p.Gly1040Ser) AND not provided | ClinVar | Detail |
| NM_000088.4(COL1A1):c.3118G>A (p.Gly1040Ser) AND Osteogenesis imperfecta type I | 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
- rs72653178 dbSNP
- Genome
- hg19
- Position
- chr17:48,265,980-48,265,980
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser