chr12:47978329:G>A Detail (hg38) (COL2A1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:48,372,112-48,372,112 View the variant detail on this assembly version. |
| hg38 | chr12:47,978,329-47,978,329 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_033150.2:c.2758C>T | NP_149162.2:p.Arg920Cys |
| NM_001844.4:c.2965C>T | NP_001835.3:p.Arg989Cys | |
| Ensemble | ENST00000337299.7:c.2758C>T | ENST00000337299.7:p.Arg920Cys |
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
Likely pathogenic
|
2022-01-03 | criteria provided, multiple submitters, no conflicts | spondyloepiphyseal dysplasia congenita |
germline
maternal
|
Detail |
|
Pathogenic
|
2023-12-17 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | spondylometaphyseal dysplasia,Stickler syndrome type 1,Namaqualand hip dysplasia,Legg-Calve-Perthes disease,spondyloepiphyseal dysplasia congenita,Spondyloepiphyseal dysplasia, Stanescu type,Avascular necrosis of femoral head, primary, 1,Kniest dysplasia,achondrogenesis type II,Multiple epiphyseal dysplasia, Beighton type,Spondyloepiphyseal dysplasia with metatarsal shortening,spondyloperipheral dysplasia,Platyspondylic dysplasia, Torrance type,Stickler syndrome, type I, nonsyndromic ocular |
unknown
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | spondylometaphyseal dysplasia,Stickler syndrome type 1,Namaqualand hip dysplasia,Legg-Calve-Perthes disease,spondyloepiphyseal dysplasia congenita,Spondyloepiphyseal dysplasia, Stanescu type,Avascular necrosis of femoral head, primary, 1,Kniest dysplasia,achondrogenesis type II,Multiple epiphyseal dysplasia, Beighton type,Spondyloepiphyseal dysplasia with metatarsal shortening,spondyloperipheral dysplasia,Platyspondylic dysplasia, Torrance type,Stickler syndrome, type I, nonsyndromic ocular |
unknown
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | spondylometaphyseal dysplasia,Stickler syndrome type 1,Namaqualand hip dysplasia,Legg-Calve-Perthes disease,spondyloepiphyseal dysplasia congenita,Spondyloepiphyseal dysplasia, Stanescu type,Avascular necrosis of femoral head, primary, 1,Kniest dysplasia,achondrogenesis type II,Multiple epiphyseal dysplasia, Beighton type,Spondyloepiphyseal dysplasia with metatarsal shortening,spondyloperipheral dysplasia,Platyspondylic dysplasia, Torrance type,Stickler syndrome, type I, nonsyndromic ocular |
unknown
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | spondylometaphyseal dysplasia,Stickler syndrome type 1,Namaqualand hip dysplasia,Legg-Calve-Perthes disease,spondyloepiphyseal dysplasia congenita,Spondyloepiphyseal dysplasia, Stanescu type,Avascular necrosis of femoral head, primary, 1,Kniest dysplasia,achondrogenesis type II,Multiple epiphyseal dysplasia, Beighton type,Spondyloepiphyseal dysplasia with metatarsal shortening,spondyloperipheral dysplasia,Platyspondylic dysplasia, Torrance type,Stickler syndrome, type I, nonsyndromic ocular |
unknown
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | spondylometaphyseal dysplasia,Stickler syndrome type 1,Namaqualand hip dysplasia,Legg-Calve-Perthes disease,spondyloepiphyseal dysplasia congenita,Spondyloepiphyseal dysplasia, Stanescu type,Avascular necrosis of femoral head, primary, 1,Kniest dysplasia,achondrogenesis type II,Multiple epiphyseal dysplasia, Beighton type,Spondyloepiphyseal dysplasia with metatarsal shortening,spondyloperipheral dysplasia,Platyspondylic dysplasia, Torrance type,Stickler syndrome, type I, nonsyndromic ocular |
unknown
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | spondylometaphyseal dysplasia,Stickler syndrome type 1,Namaqualand hip dysplasia,Legg-Calve-Perthes disease,spondyloepiphyseal dysplasia congenita,Spondyloepiphyseal dysplasia, Stanescu type,Avascular necrosis of femoral head, primary, 1,Kniest dysplasia,achondrogenesis type II,Multiple epiphyseal dysplasia, Beighton type,Spondyloepiphyseal dysplasia with metatarsal shortening,spondyloperipheral dysplasia,Platyspondylic dysplasia, Torrance type,Stickler syndrome, type I, nonsyndromic ocular |
unknown
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | spondylometaphyseal dysplasia,Stickler syndrome type 1,Namaqualand hip dysplasia,Legg-Calve-Perthes disease,spondyloepiphyseal dysplasia congenita,Spondyloepiphyseal dysplasia, Stanescu type,Avascular necrosis of femoral head, primary, 1,Kniest dysplasia,achondrogenesis type II,Multiple epiphyseal dysplasia, Beighton type,Spondyloepiphyseal dysplasia with metatarsal shortening,spondyloperipheral dysplasia,Platyspondylic dysplasia, Torrance type,Stickler syndrome, type I, nonsyndromic ocular |
unknown
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | spondylometaphyseal dysplasia,Stickler syndrome type 1,Namaqualand hip dysplasia,Legg-Calve-Perthes disease,spondyloepiphyseal dysplasia congenita,Spondyloepiphyseal dysplasia, Stanescu type,Avascular necrosis of femoral head, primary, 1,Kniest dysplasia,achondrogenesis type II,Multiple epiphyseal dysplasia, Beighton type,Spondyloepiphyseal dysplasia with metatarsal shortening,spondyloperipheral dysplasia,Platyspondylic dysplasia, Torrance type,Stickler syndrome, type I, nonsyndromic ocular |
unknown
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | spondylometaphyseal dysplasia,Stickler syndrome type 1,Namaqualand hip dysplasia,Legg-Calve-Perthes disease,spondyloepiphyseal dysplasia congenita,Spondyloepiphyseal dysplasia, Stanescu type,Avascular necrosis of femoral head, primary, 1,Kniest dysplasia,achondrogenesis type II,Multiple epiphyseal dysplasia, Beighton type,Spondyloepiphyseal dysplasia with metatarsal shortening,spondyloperipheral dysplasia,Platyspondylic dysplasia, Torrance type,Stickler syndrome, type I, nonsyndromic ocular |
unknown
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | spondylometaphyseal dysplasia,Stickler syndrome type 1,Namaqualand hip dysplasia,Legg-Calve-Perthes disease,spondyloepiphyseal dysplasia congenita,Spondyloepiphyseal dysplasia, Stanescu type,Avascular necrosis of femoral head, primary, 1,Kniest dysplasia,achondrogenesis type II,Multiple epiphyseal dysplasia, Beighton type,Spondyloepiphyseal dysplasia with metatarsal shortening,spondyloperipheral dysplasia,Platyspondylic dysplasia, Torrance type,Stickler syndrome, type I, nonsyndromic ocular |
unknown
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | spondylometaphyseal dysplasia,Stickler syndrome type 1,Namaqualand hip dysplasia,Legg-Calve-Perthes disease,spondyloepiphyseal dysplasia congenita,Spondyloepiphyseal dysplasia, Stanescu type,Avascular necrosis of femoral head, primary, 1,Kniest dysplasia,achondrogenesis type II,Multiple epiphyseal dysplasia, Beighton type,Spondyloepiphyseal dysplasia with metatarsal shortening,spondyloperipheral dysplasia,Platyspondylic dysplasia, Torrance type,Stickler syndrome, type I, nonsyndromic ocular |
unknown
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | spondylometaphyseal dysplasia,Stickler syndrome type 1,Namaqualand hip dysplasia,Legg-Calve-Perthes disease,spondyloepiphyseal dysplasia congenita,Spondyloepiphyseal dysplasia, Stanescu type,Avascular necrosis of femoral head, primary, 1,Kniest dysplasia,achondrogenesis type II,Multiple epiphyseal dysplasia, Beighton type,Spondyloepiphyseal dysplasia with metatarsal shortening,spondyloperipheral dysplasia,Platyspondylic dysplasia, Torrance type,Stickler syndrome, type I, nonsyndromic ocular |
unknown
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | spondylometaphyseal dysplasia,Stickler syndrome type 1,Namaqualand hip dysplasia,Legg-Calve-Perthes disease,spondyloepiphyseal dysplasia congenita,Spondyloepiphyseal dysplasia, Stanescu type,Avascular necrosis of femoral head, primary, 1,Kniest dysplasia,achondrogenesis type II,Multiple epiphyseal dysplasia, Beighton type,Spondyloepiphyseal dysplasia with metatarsal shortening,spondyloperipheral dysplasia,Platyspondylic dysplasia, Torrance type,Stickler syndrome, type I, nonsyndromic ocular |
unknown
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | spondylometaphyseal dysplasia,Stickler syndrome type 1,Namaqualand hip dysplasia,Legg-Calve-Perthes disease,spondyloepiphyseal dysplasia congenita,Spondyloepiphyseal dysplasia, Stanescu type,Avascular necrosis of femoral head, primary, 1,Kniest dysplasia,achondrogenesis type II,Multiple epiphyseal dysplasia, Beighton type,Spondyloepiphyseal dysplasia with metatarsal shortening,spondyloperipheral dysplasia,Platyspondylic dysplasia, Torrance type,Stickler syndrome, type I, nonsyndromic ocular |
unknown
|
Detail |
|
Pathogenic
|
2022-06-14 | criteria provided, multiple submitters, no conflicts | spondyloperipheral dysplasia |
de novo
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.2965C>T (p.Arg989Cys) AND Spondyloepiphyseal dysplasia congenita | ClinVar | Detail |
| NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) AND not provided | ClinVar | Detail |
| NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) AND multiple conditions | ClinVar | Detail |
| NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) AND multiple conditions | ClinVar | Detail |
| NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) AND multiple conditions | ClinVar | Detail |
| NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) AND multiple conditions | ClinVar | Detail |
| NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) AND multiple conditions | ClinVar | Detail |
| NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) AND multiple conditions | ClinVar | Detail |
| NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) AND multiple conditions | ClinVar | Detail |
| NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) AND multiple conditions | ClinVar | Detail |
| NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) AND multiple conditions | ClinVar | Detail |
| NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) AND multiple conditions | ClinVar | Detail |
| NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) AND multiple conditions | ClinVar | Detail |
| NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) AND multiple conditions | ClinVar | Detail |
| NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) AND multiple conditions | ClinVar | Detail |
| NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) AND multiple conditions | ClinVar | Detail |
| NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) AND Spondyloperipheral dysplasia | 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
- rs121912874 dbSNP
- Genome
- hg38
- Position
- chr12:47,978,329-47,978,329
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser