chr12:48379731:G>T Detail (hg19) (COL2A1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:48,379,731-48,379,731 |
| hg38 | chr12:47,985,948-47,985,948 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_033150.2:c.1338C>A | NP_149162.2:p.Arg446= |
| NM_001844.4:c.1545C>A | NP_001835.3:p.Arg515= | |
| Ensemble | ENST00000337299.7:c.1338C>A | ENST00000337299.7:p.Arg446= |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance |
Benign
Likely benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2016-07-25 | criteria provided, multiple submitters, no conflicts | not specified |
germline
|
Detail |
|
Likely benign
|
2018-01-13 | criteria provided, single submitter | Stickler syndrome type 1 |
germline
|
Detail |
|
Benign
|
2018-01-13 | criteria provided, single submitter | Type II Collagenopathies |
germline
|
Detail |
|
Benign
|
2024-01-31 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Benign
|
2020-10-17 | criteria provided, single submitter | Connective tissue disorder |
germline
|
Detail |
|
Benign
|
2021-08-09 | criteria provided, single submitter | Stickler syndrome, type I, nonsyndromic ocular,Legg-Calve-Perthes disease,Stickler syndrome type 1,Multiple epiphyseal dysplasia, Beighton type,Spondyloepiphyseal dysplasia, Stanescu type,Avascular necrosis of femoral head, primary, 1,spondyloperipheral dysplasia,Spondylometaphyseal dysplasia - Sutcliffe type,spondyloepiphyseal dysplasia congenita,Namaqualand hip dysplasia,Vitreoretinopathy with phalangeal epiphyseal dysplasia,Spondyloepiphyseal dysplasia with metatarsal shortening,spondyloepimetaphyseal dysplasia, Strudwick type,achondrogenesis type II,Kniest dysplasia,Platyspondylic dysplasia, Torrance type |
unknown
|
Detail |
|
Benign
|
2021-08-09 | criteria provided, single submitter | Stickler syndrome, type I, nonsyndromic ocular,Legg-Calve-Perthes disease,Stickler syndrome type 1,Multiple epiphyseal dysplasia, Beighton type,Spondyloepiphyseal dysplasia, Stanescu type,Avascular necrosis of femoral head, primary, 1,spondyloperipheral dysplasia,Spondylometaphyseal dysplasia - Sutcliffe type,spondyloepiphyseal dysplasia congenita,Namaqualand hip dysplasia,Vitreoretinopathy with phalangeal epiphyseal dysplasia,Spondyloepiphyseal dysplasia with metatarsal shortening,spondyloepimetaphyseal dysplasia, Strudwick type,achondrogenesis type II,Kniest dysplasia,Platyspondylic dysplasia, Torrance type |
unknown
|
Detail |
|
Benign
|
2021-08-09 | criteria provided, single submitter | Stickler syndrome, type I, nonsyndromic ocular,Legg-Calve-Perthes disease,Stickler syndrome type 1,Multiple epiphyseal dysplasia, Beighton type,Spondyloepiphyseal dysplasia, Stanescu type,Avascular necrosis of femoral head, primary, 1,spondyloperipheral dysplasia,Spondylometaphyseal dysplasia - Sutcliffe type,spondyloepiphyseal dysplasia congenita,Namaqualand hip dysplasia,Vitreoretinopathy with phalangeal epiphyseal dysplasia,Spondyloepiphyseal dysplasia with metatarsal shortening,spondyloepimetaphyseal dysplasia, Strudwick type,achondrogenesis type II,Kniest dysplasia,Platyspondylic dysplasia, Torrance type |
unknown
|
Detail |
|
Benign
|
2021-08-09 | criteria provided, single submitter | Stickler syndrome, type I, nonsyndromic ocular,Legg-Calve-Perthes disease,Stickler syndrome type 1,Multiple epiphyseal dysplasia, Beighton type,Spondyloepiphyseal dysplasia, Stanescu type,Avascular necrosis of femoral head, primary, 1,spondyloperipheral dysplasia,Spondylometaphyseal dysplasia - Sutcliffe type,spondyloepiphyseal dysplasia congenita,Namaqualand hip dysplasia,Vitreoretinopathy with phalangeal epiphyseal dysplasia,Spondyloepiphyseal dysplasia with metatarsal shortening,spondyloepimetaphyseal dysplasia, Strudwick type,achondrogenesis type II,Kniest dysplasia,Platyspondylic dysplasia, Torrance type |
unknown
|
Detail |
|
Benign
|
2021-08-09 | criteria provided, single submitter | Stickler syndrome, type I, nonsyndromic ocular,Legg-Calve-Perthes disease,Stickler syndrome type 1,Multiple epiphyseal dysplasia, Beighton type,Spondyloepiphyseal dysplasia, Stanescu type,Avascular necrosis of femoral head, primary, 1,spondyloperipheral dysplasia,Spondylometaphyseal dysplasia - Sutcliffe type,spondyloepiphyseal dysplasia congenita,Namaqualand hip dysplasia,Vitreoretinopathy with phalangeal epiphyseal dysplasia,Spondyloepiphyseal dysplasia with metatarsal shortening,spondyloepimetaphyseal dysplasia, Strudwick type,achondrogenesis type II,Kniest dysplasia,Platyspondylic dysplasia, Torrance type |
unknown
|
Detail |
|
Benign
|
2021-08-09 | criteria provided, single submitter | Stickler syndrome, type I, nonsyndromic ocular,Legg-Calve-Perthes disease,Stickler syndrome type 1,Multiple epiphyseal dysplasia, Beighton type,Spondyloepiphyseal dysplasia, Stanescu type,Avascular necrosis of femoral head, primary, 1,spondyloperipheral dysplasia,Spondylometaphyseal dysplasia - Sutcliffe type,spondyloepiphyseal dysplasia congenita,Namaqualand hip dysplasia,Vitreoretinopathy with phalangeal epiphyseal dysplasia,Spondyloepiphyseal dysplasia with metatarsal shortening,spondyloepimetaphyseal dysplasia, Strudwick type,achondrogenesis type II,Kniest dysplasia,Platyspondylic dysplasia, Torrance type |
unknown
|
Detail |
|
Benign
|
2021-08-09 | criteria provided, single submitter | Stickler syndrome, type I, nonsyndromic ocular,Legg-Calve-Perthes disease,Stickler syndrome type 1,Multiple epiphyseal dysplasia, Beighton type,Spondyloepiphyseal dysplasia, Stanescu type,Avascular necrosis of femoral head, primary, 1,spondyloperipheral dysplasia,Spondylometaphyseal dysplasia - Sutcliffe type,spondyloepiphyseal dysplasia congenita,Namaqualand hip dysplasia,Vitreoretinopathy with phalangeal epiphyseal dysplasia,Spondyloepiphyseal dysplasia with metatarsal shortening,spondyloepimetaphyseal dysplasia, Strudwick type,achondrogenesis type II,Kniest dysplasia,Platyspondylic dysplasia, Torrance type |
unknown
|
Detail |
|
Benign
|
2021-08-09 | criteria provided, single submitter | Stickler syndrome, type I, nonsyndromic ocular,Legg-Calve-Perthes disease,Stickler syndrome type 1,Multiple epiphyseal dysplasia, Beighton type,Spondyloepiphyseal dysplasia, Stanescu type,Avascular necrosis of femoral head, primary, 1,spondyloperipheral dysplasia,Spondylometaphyseal dysplasia - Sutcliffe type,spondyloepiphyseal dysplasia congenita,Namaqualand hip dysplasia,Vitreoretinopathy with phalangeal epiphyseal dysplasia,Spondyloepiphyseal dysplasia with metatarsal shortening,spondyloepimetaphyseal dysplasia, Strudwick type,achondrogenesis type II,Kniest dysplasia,Platyspondylic dysplasia, Torrance type |
unknown
|
Detail |
|
Benign
|
2021-08-09 | criteria provided, single submitter | Stickler syndrome, type I, nonsyndromic ocular,Legg-Calve-Perthes disease,Stickler syndrome type 1,Multiple epiphyseal dysplasia, Beighton type,Spondyloepiphyseal dysplasia, Stanescu type,Avascular necrosis of femoral head, primary, 1,spondyloperipheral dysplasia,Spondylometaphyseal dysplasia - Sutcliffe type,spondyloepiphyseal dysplasia congenita,Namaqualand hip dysplasia,Vitreoretinopathy with phalangeal epiphyseal dysplasia,Spondyloepiphyseal dysplasia with metatarsal shortening,spondyloepimetaphyseal dysplasia, Strudwick type,achondrogenesis type II,Kniest dysplasia,Platyspondylic dysplasia, Torrance type |
unknown
|
Detail |
|
Benign
|
2021-08-09 | criteria provided, single submitter | Stickler syndrome, type I, nonsyndromic ocular,Legg-Calve-Perthes disease,Stickler syndrome type 1,Multiple epiphyseal dysplasia, Beighton type,Spondyloepiphyseal dysplasia, Stanescu type,Avascular necrosis of femoral head, primary, 1,spondyloperipheral dysplasia,Spondylometaphyseal dysplasia - Sutcliffe type,spondyloepiphyseal dysplasia congenita,Namaqualand hip dysplasia,Vitreoretinopathy with phalangeal epiphyseal dysplasia,Spondyloepiphyseal dysplasia with metatarsal shortening,spondyloepimetaphyseal dysplasia, Strudwick type,achondrogenesis type II,Kniest dysplasia,Platyspondylic dysplasia, Torrance type |
unknown
|
Detail |
|
Benign
|
2021-08-09 | criteria provided, single submitter | Stickler syndrome, type I, nonsyndromic ocular,Legg-Calve-Perthes disease,Stickler syndrome type 1,Multiple epiphyseal dysplasia, Beighton type,Spondyloepiphyseal dysplasia, Stanescu type,Avascular necrosis of femoral head, primary, 1,spondyloperipheral dysplasia,Spondylometaphyseal dysplasia - Sutcliffe type,spondyloepiphyseal dysplasia congenita,Namaqualand hip dysplasia,Vitreoretinopathy with phalangeal epiphyseal dysplasia,Spondyloepiphyseal dysplasia with metatarsal shortening,spondyloepimetaphyseal dysplasia, Strudwick type,achondrogenesis type II,Kniest dysplasia,Platyspondylic dysplasia, Torrance type |
unknown
|
Detail |
|
Benign
|
2021-08-09 | criteria provided, single submitter | Stickler syndrome, type I, nonsyndromic ocular,Legg-Calve-Perthes disease,Stickler syndrome type 1,Multiple epiphyseal dysplasia, Beighton type,Spondyloepiphyseal dysplasia, Stanescu type,Avascular necrosis of femoral head, primary, 1,spondyloperipheral dysplasia,Spondylometaphyseal dysplasia - Sutcliffe type,spondyloepiphyseal dysplasia congenita,Namaqualand hip dysplasia,Vitreoretinopathy with phalangeal epiphyseal dysplasia,Spondyloepiphyseal dysplasia with metatarsal shortening,spondyloepimetaphyseal dysplasia, Strudwick type,achondrogenesis type II,Kniest dysplasia,Platyspondylic dysplasia, Torrance type |
unknown
|
Detail |
|
Benign
|
2021-08-09 | criteria provided, single submitter | Stickler syndrome, type I, nonsyndromic ocular,Legg-Calve-Perthes disease,Stickler syndrome type 1,Multiple epiphyseal dysplasia, Beighton type,Spondyloepiphyseal dysplasia, Stanescu type,Avascular necrosis of femoral head, primary, 1,spondyloperipheral dysplasia,Spondylometaphyseal dysplasia - Sutcliffe type,spondyloepiphyseal dysplasia congenita,Namaqualand hip dysplasia,Vitreoretinopathy with phalangeal epiphyseal dysplasia,Spondyloepiphyseal dysplasia with metatarsal shortening,spondyloepimetaphyseal dysplasia, Strudwick type,achondrogenesis type II,Kniest dysplasia,Platyspondylic dysplasia, Torrance type |
unknown
|
Detail |
|
Benign
|
2021-08-09 | criteria provided, single submitter | Stickler syndrome, type I, nonsyndromic ocular,Legg-Calve-Perthes disease,Stickler syndrome type 1,Multiple epiphyseal dysplasia, Beighton type,Spondyloepiphyseal dysplasia, Stanescu type,Avascular necrosis of femoral head, primary, 1,spondyloperipheral dysplasia,Spondylometaphyseal dysplasia - Sutcliffe type,spondyloepiphyseal dysplasia congenita,Namaqualand hip dysplasia,Vitreoretinopathy with phalangeal epiphyseal dysplasia,Spondyloepiphyseal dysplasia with metatarsal shortening,spondyloepimetaphyseal dysplasia, Strudwick type,achondrogenesis type II,Kniest dysplasia,Platyspondylic dysplasia, Torrance type |
unknown
|
Detail |
|
Benign
|
2021-08-09 | criteria provided, single submitter | Stickler syndrome, type I, nonsyndromic ocular,Legg-Calve-Perthes disease,Stickler syndrome type 1,Multiple epiphyseal dysplasia, Beighton type,Spondyloepiphyseal dysplasia, Stanescu type,Avascular necrosis of femoral head, primary, 1,spondyloperipheral dysplasia,Spondylometaphyseal dysplasia - Sutcliffe type,spondyloepiphyseal dysplasia congenita,Namaqualand hip dysplasia,Vitreoretinopathy with phalangeal epiphyseal dysplasia,Spondyloepiphyseal dysplasia with metatarsal shortening,spondyloepimetaphyseal dysplasia, Strudwick type,achondrogenesis type II,Kniest dysplasia,Platyspondylic dysplasia, Torrance type |
unknown
|
Detail |
|
Benign
|
2021-08-09 | criteria provided, single submitter | Stickler syndrome, type I, nonsyndromic ocular,Legg-Calve-Perthes disease,Stickler syndrome type 1,Multiple epiphyseal dysplasia, Beighton type,Spondyloepiphyseal dysplasia, Stanescu type,Avascular necrosis of femoral head, primary, 1,spondyloperipheral dysplasia,Spondylometaphyseal dysplasia - Sutcliffe type,spondyloepiphyseal dysplasia congenita,Namaqualand hip dysplasia,Vitreoretinopathy with phalangeal epiphyseal dysplasia,Spondyloepiphyseal dysplasia with metatarsal shortening,spondyloepimetaphyseal dysplasia, Strudwick type,achondrogenesis type II,Kniest dysplasia,Platyspondylic dysplasia, Torrance type |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001844.5(COL2A1):c.1545C>A (p.Arg515=) AND not specified | ClinVar | Detail |
| NM_001844.5(COL2A1):c.1545C>A (p.Arg515=) AND Stickler syndrome type 1 | ClinVar | Detail |
| NM_001844.5(COL2A1):c.1545C>A (p.Arg515=) AND Type II Collagenopathies | ClinVar | Detail |
| NM_001844.5(COL2A1):c.1545C>A (p.Arg515=) AND not provided | ClinVar | Detail |
| NM_001844.5(COL2A1):c.1545C>A (p.Arg515=) AND Connective tissue disorder | ClinVar | Detail |
| NM_001844.5(COL2A1):c.1545C>A (p.Arg515=) AND multiple conditions | ClinVar | Detail |
| NM_001844.5(COL2A1):c.1545C>A (p.Arg515=) AND multiple conditions | ClinVar | Detail |
| NM_001844.5(COL2A1):c.1545C>A (p.Arg515=) AND multiple conditions | ClinVar | Detail |
| NM_001844.5(COL2A1):c.1545C>A (p.Arg515=) AND multiple conditions | ClinVar | Detail |
| NM_001844.5(COL2A1):c.1545C>A (p.Arg515=) AND multiple conditions | ClinVar | Detail |
| NM_001844.5(COL2A1):c.1545C>A (p.Arg515=) AND multiple conditions | ClinVar | Detail |
| NM_001844.5(COL2A1):c.1545C>A (p.Arg515=) AND multiple conditions | ClinVar | Detail |
| NM_001844.5(COL2A1):c.1545C>A (p.Arg515=) AND multiple conditions | ClinVar | Detail |
| NM_001844.5(COL2A1):c.1545C>A (p.Arg515=) AND multiple conditions | ClinVar | Detail |
| NM_001844.5(COL2A1):c.1545C>A (p.Arg515=) AND multiple conditions | ClinVar | Detail |
| NM_001844.5(COL2A1):c.1545C>A (p.Arg515=) AND multiple conditions | ClinVar | Detail |
| NM_001844.5(COL2A1):c.1545C>A (p.Arg515=) AND multiple conditions | ClinVar | Detail |
| NM_001844.5(COL2A1):c.1545C>A (p.Arg515=) AND multiple conditions | ClinVar | Detail |
| NM_001844.5(COL2A1):c.1545C>A (p.Arg515=) AND multiple conditions | ClinVar | Detail |
| NM_001844.5(COL2A1):c.1545C>A (p.Arg515=) AND multiple conditions | ClinVar | Detail |
| NM_001844.5(COL2A1):c.1545C>A (p.Arg515=) AND multiple conditions | ClinVar | 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
- rs41317925 dbSNP
- Genome
- hg19
- Position
- chr12:48,379,731-48,379,731
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 654
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 20970
- Allele Counts in All Race (ExAC)
- 148
- Heterozygous Counts in All Race (ExAC)
- 144
- Homozygous Counts in All Race (ExAC)
- 2
- Allele Frequency in All Race (ExAC)
- 0.0070577014783023365
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