chr12:47980649:G>A Detail (hg38) (COL2A1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:48,374,432-48,374,432 View the variant detail on this assembly version. |
| hg38 | chr12:47,980,649-47,980,649 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_033150.2:c.2323C>T | NP_149162.2:p.Gln775Ter |
| NM_001844.4:c.2530C>T | NP_001835.3:p.Gln844Ter | |
| Ensemble | ENST00000337299.7:c.2323C>T | ENST00000337299.7:p.Gln775Ter |
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
|
2019-05-09 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.483 | Stickler syndrome, type 1 | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001844.5(COL2A1):c.2530C>T (p.Gln844Ter) 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
- rs794727607 dbSNP
- Genome
- hg38
- Position
- chr12:47,980,649-47,980,649
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser