chr2:71680691:> Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:71,680,691-71,913,893 |
| hg38 | chr2:71,453,561-71,686,763 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | Cardiovascular Diseases | NA | BeFree | Detail | |
| 0.577 | Miyoshi myopathy | Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopat... | UNIPROT | 11468312 | Detail |
| <0.001 | Chorea | NA | BeFree | Detail | |
| <0.001 | Kyphosis deformity of spine | NA | BeFree | Detail | |
| <0.001 | multiple sclerosis | NA | BeFree | Detail | |
| 0.001 | muscular atrophy | NA | BeFree | Detail | |
| 0.009 | myopathy | NA | BeFree,LHGDN | Detail | |
| 0.024 | muscular dystrophy | Proteasome inhibitors increase missense mutated dysferlin in patients with muscu... | BeFree,LHGDN | 25143362 | Detail |
| 0.024 | muscular dystrophy | Comparing clinical data and muscle imaging of DYSF and ANO5 related muscular dys... | BeFree,LHGDN | 25176504 | Detail |
| 0.001 | myositis | NA | BeFree | Detail | |
| <0.001 | lipoid nephrosis | NA | BeFree | Detail | |
| 0.001 | Neuromuscular Diseases | NA | BeFree | Detail | |
| <0.001 | Pain | NA | BeFree | Detail | |
| 0.001 | Paresis | The pattern of fatty degeneration of muscles and of muscle weakness shows only m... | BeFree | 25176504 | Detail |
| <0.001 | Protein Deficiency | NA | BeFree | Detail | |
| 0.002 | Tobacco use disorder | NA | GAD | Detail | |
| <0.001 | polymyositis | NA | BeFree | Detail | |
| 0.001 | Muscle Weakness | The pattern of fatty degeneration of muscles and of muscle weakness shows only m... | BeFree | 25176504 | Detail |
| <0.001 | Welander distal myopathy | NA | BeFree | Detail | |
| <0.001 | Muscle degeneration | NA | BeFree | Detail | |
| <0.001 | congenital kyphosis | NA | BeFree | Detail | |
| <0.001 | Congenital myopathy (disorder) | NA | BeFree | Detail | |
| <0.001 | Fukuyama Type Congenital Muscular Dystrophy | Contribution of dysferlin deficiency to skeletal muscle pathology in asymptomati... | BeFree | 25198651 | Detail |
| 0.023 | Muscular Dystrophies, Limb-Girdle | In this retrospective cross-sectional study clinical and muscle imaging data of ... | BeFree,LHGDN | 25176504 | Detail |
| <0.001 | Proximal weakness | NA | BeFree | Detail | |
| 0.010 | Distal Muscular Dystrophies | NA | BeFree,LHGDN | Detail | |
| 0.003 | Cardiomyopathies | NA | BeFree,LHGDN | Detail | |
| <0.001 | Degenerative disorder | NA | BeFree | Detail | |
| <0.001 | rippling muscle disease 1 | NA | BeFree | Detail | |
| 0.577 | Miyoshi myopathy | In this retrospective cross-sectional study clinical and muscle imaging data of ... | BeFree,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT | 25176504 | Detail |
| <0.001 | Rippling muscle disease | NA | BeFree | Detail | |
| <0.001 | Limb-girdle muscular dystrophy type 2A | NA | BeFree | Detail | |
| 0.007 | Dysferlinopathy | Our results suggest that: (1) dysferlin expression can also be regulated by fact... | BeFree | 24838345 | Detail |
| <0.001 | Sarcoglycanopathies | NA | BeFree | Detail | |
| <0.001 | Plaque, Amyloid | NA | BeFree | Detail | |
| 0.120 | Juvenile arthritis | NA | CTD_human | Detail | |
| <0.001 | Alzheimer's disease | Furthermore, we found evidence that coding variants in the known susceptibility ... | BeFree | 25706306 | Detail |
| <0.001 | amyloidosis | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Proteasome inhibitors increase missense mutated dysferlin in patients with muscular dystrophy. | DisGeNET | Detail |
| Comparing clinical data and muscle imaging of DYSF and ANO5 related muscular dystrophies. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The pattern of fatty degeneration of muscles and of muscle weakness shows only minor differences bet... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The pattern of fatty degeneration of muscles and of muscle weakness shows only minor differences bet... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Contribution of dysferlin deficiency to skeletal muscle pathology in asymptomatic and severe dystrog... | DisGeNET | Detail |
| In this retrospective cross-sectional study clinical and muscle imaging data of patients with Miyosh... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In this retrospective cross-sectional study clinical and muscle imaging data of patients with Miyosh... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Our results suggest that: (1) dysferlin expression can also be regulated by factors outside of the d... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Furthermore, we found evidence that coding variants in the known susceptibility gene ABCA7, as well ... | 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
- rs28939700 dbSNP
- Genome
- hg19
- Position
- chr2:71,680,691-71,913,893
- Variant Type
- snv
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