chr21:47410741:G>A Detail (hg19) (COL6A1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr21:47,410,741-47,410,741 |
hg38 | chr21:45,990,827-45,990,827 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001848.2:c.1056+1G>A | |
Ensemble | ENST00000361866.8:c.1056+1G>A |
Summary
MGeND
Clinical significance |
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Variant entry | 2 |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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bethlem myopathy |
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MGS000009
(TMGS000039) |
Shoji Tsuji | Tokyo University | ||||
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ullrich congenital muscular dystrophy |
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MGS000074
(TMGS000150) |
Kenjiro Kosaki Nishino Ichizo |
Keio University National Center of Neurology and Psychiatry |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2023-11-13 | criteria provided, multiple submitters, no conflicts | Bethlem myopathy 1A |
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Detail |
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2022-05-20 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2017-01-01 | criteria provided, single submitter |
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Detail | |
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2021-07-10 | criteria provided, single submitter |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.564 | Bethlem myopathy | NA | CLINVAR | Detail | |
0.368 | Scleroatonic muscular dystrophy | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001848.3(COL6A1):c.1056+1G>A AND Bethlem myopathy 1A | ClinVar | Detail |
NM_001848.3(COL6A1):c.1056+1G>A AND not provided | ClinVar | Detail |
NM_001848.3(COL6A1):c.1056+1G>A AND Sensorimotor neuropathy | ClinVar | Detail |
NM_001848.3(COL6A1):c.1056+1G>A AND Abnormality of the musculature | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs398123631 dbSNP
- Genome
- hg19
- Position
- chr21:47,410,741-47,410,741
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
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