chr12:47974090:G>T Detail (hg38) (COL2A1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:48,367,873-48,367,873 View the variant detail on this assembly version. |
| hg38 | chr12:47,974,090-47,974,090 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_033150.2:c.4109C>A | NP_149162.2:p.Thr1370Lys |
| NM_001844.4:c.4316C>A | NP_001835.3:p.Thr1439Lys | |
| Ensemble | ENST00000337299.7:c.4109C>A | ENST00000337299.7:p.Thr1370Lys |
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 | |
| Review star | [No Data.] |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.125 | spondyloepiphyseal dysplasia | NA | CLINVAR | Detail | |
| 0.361 | Spondyloperipheral dysplasia short ulna | NA | CLINVAR | Detail |
Annotation
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
- -
- Genome
- hg38
- Position
- chr12:47,974,090-47,974,090
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8654
- 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)
- 121340
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.241305422778968E-6
Genome browser