chr12:47974234:T>C Detail (hg38) (COL2A1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:48,368,017-48,368,017 View the variant detail on this assembly version. |
| hg38 | chr12:47,974,234-47,974,234 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_033150.2:c.3965A>G | NP_149162.2:p.Tyr1322Cys |
| NM_001844.4:c.4172A>G | NP_001835.3:p.Tyr1391Cys | |
| Ensemble | ENST00000337299.7:c.3965A>G | ENST00000337299.7:p.Tyr1322Cys |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
platyspondylic skeketal dysplasia Torrance type |
germline
|
MGS000082
(TMGS000165) |
Kenjiro Kosaki Kenjiro Kosaki |
Keio University Mutation View |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2007-12-01 | no assertion criteria provided | Platyspondylic dysplasia, Torrance type |
germline
|
Detail |
|
Pathogenic
|
2007-12-01 | no assertion criteria provided | spondyloperipheral dysplasia |
germline
|
Detail |
|
Likely pathogenic
|
2020-02-20 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.361 | Spondyloperipheral dysplasia short ulna | NA | CLINVAR | Detail | |
| 0.561 | Platyspondylic Lethal Skeletal Dysplasia, Torrance Type | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001844.5(COL2A1):c.4172A>G (p.Tyr1391Cys) AND Platyspondylic dysplasia, Torrance type | ClinVar | Detail |
| NM_001844.5(COL2A1):c.4172A>G (p.Tyr1391Cys) AND Spondyloperipheral dysplasia | ClinVar | Detail |
| NM_001844.5(COL2A1):c.4172A>G (p.Tyr1391Cys) AND not provided | ClinVar | Detail |
| NA | DisGeNET | 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
- rs121912889 dbSNP
- Genome
- hg38
- Position
- chr12:47,974,234-47,974,234
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
Genome browser