chr17:50198459:C>T Detail (hg38) (COL1A1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:48,275,820-48,275,820 View the variant detail on this assembly version. |
| hg38 | chr17:50,198,459-50,198,459 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000088.3:c.517G>A | NP_000079.2:p.Gly173Arg |
| Ensemble | ENST00000225964.10:c.517G>A | ENST00000225964.10:p.Gly173Arg |
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 |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Uncertain significance
|
2024-01-02 | criteria provided, single submitter | Osteogenesis imperfecta type I |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.316 | osteogenesis imperfecta | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000088.4(COL1A1):c.517G>A (p.Gly173Arg) AND Osteogenesis imperfecta type I | 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
- -
- Genome
- hg38
- Position
- chr17:50,198,459-50,198,459
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8360
- East Asian Allele Counts (ExAC)
- 1
- East Asian Heterozygous Counts (ExAC)
- 1
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 1.1961722488038278E-4
- Chromosome Counts in All Race (ExAC)
- 111294
- 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)
- 8.985210343774148E-6
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