chr21:47409043:G>A Detail (hg19) (COL6A1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr21:47,409,043-47,409,043 |
| hg38 | chr21:45,989,129-45,989,129 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001848.2:c.850G>A | NP_001839.2:p.Gly284Arg |
| Ensemble | ENST00000361866.8:c.850G>A | ENST00000361866.8:p.Gly284Arg |
Summary
MGeND
| Clinical significance |
Likely pathogenic
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Likely pathogenic
|
ullrich congenital muscular dystrophy |
germline
|
MGS000074
(TMGS000150) |
Kenjiro Kosaki Nishino Ichizo |
Keio University National Center of Neurology and Psychiatry |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2022-05-05 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Pathogenic
|
2023-12-16 | criteria provided, single submitter | Bethlem myopathy 1A |
germline
|
Detail |
|
Pathogenic
|
2021-10-01 | criteria provided, multiple submitters, no conflicts | Ullrich congenital muscular dystrophy 1A |
germline
paternal
unknown
|
Detail |
|
Pathogenic
|
2023-04-21 | criteria provided, single submitter | Collagen 6-related myopathy |
unknown
|
Detail |
|
Pathogenic
|
2009-07-07 | no assertion criteria provided | ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A, AUTOSOMAL DOMINANT |
germline
|
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 | |
| 0.120 | Congenital muscular dystrophy (disorder) | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg) AND not provided | ClinVar | Detail |
| NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg) AND Bethlem myopathy 1A | ClinVar | Detail |
| NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg) AND Ullrich congenital muscular dystrophy 1A | ClinVar | Detail |
| NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg) AND Collagen 6-related myopathy | ClinVar | Detail |
| NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg) AND ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A, AUTOSOMAL D... | ClinVar | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | 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
- rs121912938 dbSNP
- Genome
- hg19
- Position
- chr21:47,409,043-47,409,043
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser