chr12:48377887:C>A Detail (hg19) (COL2A1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:48,377,887-48,377,887 |
| hg38 | chr12:47,984,104-47,984,104 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001844.4:c.1924G>T | NP_001835.3:p.Gly642Ter |
| NM_033150.2:c.1717G>T | NP_149162.2:p.Gly573Ter | |
| Ensemble | ENST00000380518.8:c.1924G>T | ENST00000380518.8:p.Gly642Ter |
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
|
2015-02-09 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.560 | Stickler syndrome, type I, nonsyndromic ocular | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001844.5(COL2A1):c.1924G>T (p.Gly642Ter) AND not provided | 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
- rs794727472 dbSNP
- Genome
- hg19
- Position
- chr12:48,377,887-48,377,887
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
Genome browser