chr17:50194419:C>G Detail (hg38) (COL1A1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:48,271,780-48,271,780 View the variant detail on this assembly version. |
| hg38 | chr17:50,194,419-50,194,419 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000088.3:c.1544G>C | NP_000079.2:p.Gly515Ala |
| Ensemble | ENST00000225964.10:c.1544G>C | ENST00000225964.10:p.Gly515Ala |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2011-08-18 | criteria provided, single submitter | osteogenesis imperfecta |
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.1544G>C (p.Gly515Ala) AND Osteogenesis imperfecta | 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
- rs193922140 dbSNP
- Genome
- hg38
- Position
- chr17:50,194,419-50,194,419
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
Genome browser