chr12:48000019:G>A Detail (hg38) (COL2A1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:48,393,802-48,393,802 View the variant detail on this assembly version. |
| hg38 | chr12:48,000,019-48,000,019 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_033150.2:c.86-1588C>T | |
| NM_001844.4:c.192C>T | NP_001835.3:p.Cys64= | |
| Ensemble | ENST00000337299.7:c.86-1588C>T |
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 |
Likely benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely benign
|
2023-12-22 | 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.192C>T (p.Cys64=) 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
- rs121912897 dbSNP
- Genome
- hg38
- Position
- chr12:48,000,019-48,000,019
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8622
- 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)
- 120488
- Allele Counts in All Race (ExAC)
- 6
- Heterozygous Counts in All Race (ExAC)
- 6
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 4.979749020649359E-5
Genome browser