chr21:45998406:G>A Detail (hg38) (COL6A1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr21:47,418,320-47,418,320 View the variant detail on this assembly version. |
| hg38 | chr21:45,998,406-45,998,406 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001848.2:c.1584G>A | NP_001839.2:p.Pro528= |
| Ensemble | ENST00000361866.8:c.1584G>A | ENST00000361866.8:p.Pro528= |
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 benign
|
criteria provided, single submitter | not specified |
germline
|
Detail | |
Benign
|
2018-01-12 | criteria provided, single submitter | Collagen 6-related myopathy |
germline
|
Detail |
Conflicting interpretations of pathogenicity
|
2024-03-01 | criteria provided, conflicting interpretations | not provided |
germline
|
Detail |
|
Benign
|
2024-01-25 | criteria provided, single submitter | Bethlem myopathy 1A |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001848.3(COL6A1):c.1584G>A (p.Pro528=) AND not specified | ClinVar | Detail |
| NM_001848.3(COL6A1):c.1584G>A (p.Pro528=) AND Collagen 6-related myopathy | ClinVar | Detail |
| NM_001848.3(COL6A1):c.1584G>A (p.Pro528=) AND not provided | ClinVar | Detail |
| NM_001848.3(COL6A1):c.1584G>A (p.Pro528=) AND Bethlem myopathy 1A | ClinVar | 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
- rs139243418 dbSNP
- Genome
- hg38
- Position
- chr21:45,998,406-45,998,406
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8624
- 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)
- 119888
- Allele Counts in All Race (ExAC)
- 85
- Heterozygous Counts in All Race (ExAC)
- 85
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 7.089950620579207E-4
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