chr17:48267239:C>T Detail (hg19) (COL1A1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:48,267,239-48,267,239 |
| hg38 | chr17:50,189,878-50,189,878 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000088.3:c.2594G>A | NP_000079.2:p.Arg865His |
| Ensemble | ENST00000225964.10:c.2594G>A | ENST00000225964.10:p.Arg865His |
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 | Conflicting classifications of pathogenicity |
| 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 |
Benign
|
2022-11-14 | criteria provided, single submitter | Osteogenesis imperfecta type I |
germline
|
Detail |
Uncertain significance
|
2022-12-17 | criteria provided, single submitter | Ehlers-Danlos syndrome, arthrochalasia type |
germline
|
Detail |
|
Uncertain significance
|
2023-11-17 | criteria provided, single submitter |
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.2594G>A (p.Arg865His) AND Osteogenesis imperfecta | ClinVar | Detail |
| NM_000088.4(COL1A1):c.2594G>A (p.Arg865His) AND Osteogenesis imperfecta type I | ClinVar | Detail |
| NM_000088.4(COL1A1):c.2594G>A (p.Arg865His) AND Ehlers-Danlos syndrome, arthrochalasia type | ClinVar | Detail |
| NM_000088.4(COL1A1):c.2594G>A (p.Arg865His) AND Cardiovascular phenotype | 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
- rs193922150 dbSNP
- Genome
- hg19
- Position
- chr17:48,267,239-48,267,239
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 7020
- 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)
- 95452
- Allele Counts in All Race (ExAC)
- 3
- Heterozygous Counts in All Race (ExAC)
- 3
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 3.142940954615933E-5
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