chr12:48369754:C>T Detail (hg19) (COL2A1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:48,369,754-48,369,754 |
| hg38 | chr12:47,975,971-47,975,971 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_033150.2:c.3382G>A | NP_149162.2:p.Gly1128Ser |
| NM_001844.4:c.3589G>A | NP_001835.3:p.Gly1197Ser | |
| Ensemble | ENST00000337299.7:c.3382G>A | ENST00000337299.7:p.Gly1128Ser |
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 |
|---|---|---|---|---|---|
|
Pathogenic
|
criteria provided, single submitter | spondyloepiphyseal dysplasia congenita |
germline
|
Detail | |
|
Pathogenic
Likely pathogenic
|
2023-07-03 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Pathogenic
|
2021-10-01 | criteria provided, single submitter | spondyloepimetaphyseal dysplasia, Strudwick type |
unknown
|
Detail |
|
Pathogenic
Likely pathogenic
|
2022-05-04 | criteria provided, multiple submitters, no conflicts | Stickler syndrome type 1 |
germline
|
Detail |
|
Pathogenic
|
2022-02-02 | criteria provided, single submitter | Namaqualand hip dysplasia |
germline
|
Detail |
|
Pathogenic
|
2020-02-01 | criteria provided, single submitter | Connective tissue disorder |
germline
|
Detail |
|
Pathogenic
|
2023-02-23 | criteria provided, single submitter | spondyloperipheral dysplasia |
unknown
|
Detail |
|
Pathogenic
|
2023-07-01 | criteria provided, single submitter | Type 2 collagenopathy |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.125 | spondyloepiphyseal dysplasia | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser) AND Spondyloepiphyseal dysplasia congenita | ClinVar | Detail |
| NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser) AND not provided | ClinVar | Detail |
| NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser) AND Spondyloepimetaphyseal dysplasia, Strudwick type | ClinVar | Detail |
| NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser) AND Stickler syndrome type 1 | ClinVar | Detail |
| NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser) AND Namaqualand hip dysplasia | ClinVar | Detail |
| NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser) AND Connective tissue disorder | ClinVar | Detail |
| NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser) AND Spondyloperipheral dysplasia | ClinVar | Detail |
| NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser) AND Type 2 collagenopathy | 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
- rs121912870 dbSNP
- Genome
- hg19
- Position
- chr12:48,369,754-48,369,754
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser