chr19:45769717:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:46,272,975-46,285,754 |
| hg38 | chr19:45,769,717-45,782,496 |
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 |
|---|---|---|---|---|---|
| 0.003 | hypertrophic cardiomyopathy | NA | BeFree,LHGDN | Detail | |
| 0.002 | celiac disease | NA | GAD | Detail | |
| 0.002 | Congenital chromosomal disease | NA | GAD | Detail | |
| 0.002 | diabetes mellitus | NA | BeFree | Detail | |
| <0.001 | Focal glomerulosclerosis | Two upregulated podocyte genes in murine FSGS (CXCL1 and DMPK) were found to be ... | BeFree | 24940801 | Detail |
| 0.002 | Huntington disease | NA | GAD | Detail | |
| <0.001 | hypogonadism | NA | BeFree | Detail | |
| <0.001 | muscular atrophy | NA | BeFree | Detail | |
| 0.004 | myopathy | NA | BeFree,LHGDN | Detail | |
| 0.002 | muscular dystrophy | Myotonic dystrophy type 1 (DM1), a muscular dystrophy due to CTG expansion in th... | BeFree | 24768612 | Detail |
| 0.002 | muscular dystrophy | Myotonic dystrophy type 1 (DM1) is the most common form of muscular dystrophy af... | BeFree | 25934189 | Detail |
| 0.120 | Myotonia | NA | CTD_human | Detail | |
| 0.445 | Myotonic dystrophy | Myotonic dystrophy type 1 (DM1), a muscular dystrophy due to CTG expansion in th... | BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD | 24768612 | Detail |
| 0.445 | Myotonic dystrophy | Expandable (CTG)n repeats in the 3' UTR of the DMPK gene are a cause of myotonic... | BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD | 24824895 | Detail |
| 0.445 | Myotonic dystrophy | Myotonic dystrophy type 1 (DM1, Steinert's disease) is caused by a (CTG)n expans... | BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD | 24882752 | Detail |
| 0.445 | Myotonic dystrophy | CUG repeat expansions in the 3' UTR of dystrophia myotonica protein kinase (DMPK... | BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD | 25303993 | Detail |
| 0.445 | Myotonic dystrophy | Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystemic disorder ... | BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD | 25753670 | Detail |
| 0.445 | Myotonic dystrophy | Myotonic dystrophy type 1 (DM1) is the most common form of muscular dystrophy af... | BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD | 25934189 | Detail |
| 0.445 | Myotonic dystrophy | Identification and characterization of modified antisense oligonucleotides targe... | BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD | 26330536 | Detail |
| 0.003 | Neuromuscular Diseases | NA | BeFree | Detail | |
| <0.001 | optic atrophy | NA | BeFree | Detail | |
| <0.001 | Paresis | NA | BeFree | Detail | |
| 0.005 | schizophrenia | NA | GAD | Detail | |
| 0.006 | cataract | NA | BeFree,GAD | Detail | |
| 0.002 | Ataxia, Spinocerebellar | NA | GAD | Detail | |
| <0.001 | Muscle Weakness | NA | BeFree | Detail | |
| <0.001 | adrenoleukodystrophy | NA | BeFree | Detail | |
| <0.001 | centronuclear myopathy | NA | BeFree | Detail | |
| <0.001 | Interstitial fibrosis | NA | BeFree | Detail | |
| <0.001 | myotonic muscular dystrophy | NA | BeFree | Detail | |
| <0.001 | Abnormal mental state | NA | BeFree | Detail | |
| <0.001 | Charcot-Marie-Tooth disease, X-linked, 1 | NA | BeFree | Detail | |
| 0.061 | Congenital Myotonic Dystrophy | Myotonic dystrophy type 1 (DM1), a muscular dystrophy due to CTG expansion in th... | BeFree | 24768612 | Detail |
| 0.061 | Congenital Myotonic Dystrophy | Expandable (CTG)n repeats in the 3' UTR of the DMPK gene are a cause of myotonic... | BeFree | 24824895 | Detail |
| 0.061 | Congenital Myotonic Dystrophy | Myotonic dystrophy type 1 (DM1, Steinert's disease) is caused by a (CTG)n expans... | BeFree | 24882752 | Detail |
| 0.061 | Congenital Myotonic Dystrophy | CUG repeat expansions in the 3' UTR of dystrophia myotonica protein kinase (DMPK... | BeFree | 25303993 | Detail |
| 0.061 | Congenital Myotonic Dystrophy | Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystemic disorder ... | BeFree | 25753670 | Detail |
| 0.061 | Congenital Myotonic Dystrophy | Myotonic dystrophy type 1 (DM1) is the most common form of muscular dystrophy af... | BeFree | 25934189 | Detail |
| 0.061 | Congenital Myotonic Dystrophy | Identification and characterization of modified antisense oligonucleotides targe... | BeFree | 26330536 | Detail |
| <0.001 | Bilateral cataracts (disorder) | NA | BeFree | Detail | |
| <0.001 | Congenital Fiber Type Disproportion | NA | BeFree | Detail | |
| <0.001 | Myotonic Disorders | NA | BeFree | Detail | |
| <0.001 | Multisystem disorder | NA | BeFree | Detail | |
| <0.001 | 3-methylglutaconic aciduria type 3 | NA | BeFree | Detail | |
| <0.001 | cardiac event | NA | BeFree | Detail | |
| <0.001 | Syncope, Cardiogenic | NA | BeFree | Detail | |
| <0.001 | congenital structural myopathy | NA | BeFree | Detail | |
| <0.001 | Mental handicap | NA | BeFree | Detail | |
| <0.001 | Adrenomyeloneuropathy | NA | BeFree | Detail | |
| <0.001 | Dystrophia myotonica 2 | NA | BeFree | Detail | |
| 0.003 | intellectual disability | NA | LHGDN | Detail | |
| 0.445 | Myotonic dystrophy | NA | CLINVAR | Detail | |
| 0.002 | atherosclerosis | NA | GAD | Detail | |
| <0.001 | azoospermia | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Two upregulated podocyte genes in murine FSGS (CXCL1 and DMPK) were found to be upregulated at the p... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Myotonic dystrophy type 1 (DM1), a muscular dystrophy due to CTG expansion in the DMPK gene, can cau... | DisGeNET | Detail |
| Myotonic dystrophy type 1 (DM1) is the most common form of muscular dystrophy affecting adults and i... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Myotonic dystrophy type 1 (DM1), a muscular dystrophy due to CTG expansion in the DMPK gene, can cau... | DisGeNET | Detail |
| Expandable (CTG)n repeats in the 3' UTR of the DMPK gene are a cause of myotonic dystrophy type 1 (D... | DisGeNET | Detail |
| Myotonic dystrophy type 1 (DM1, Steinert's disease) is caused by a (CTG)n expansion in DMPK, while m... | DisGeNET | Detail |
| CUG repeat expansions in the 3' UTR of dystrophia myotonica protein kinase (DMPK) cause myotonic dys... | DisGeNET | Detail |
| Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystemic disorder caused by expansion ... | DisGeNET | Detail |
| Myotonic dystrophy type 1 (DM1) is the most common form of muscular dystrophy affecting adults and i... | DisGeNET | Detail |
| Identification and characterization of modified antisense oligonucleotides targeting DMPK in mice an... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Myotonic dystrophy type 1 (DM1), a muscular dystrophy due to CTG expansion in the DMPK gene, can cau... | DisGeNET | Detail |
| Expandable (CTG)n repeats in the 3' UTR of the DMPK gene are a cause of myotonic dystrophy type 1 (D... | DisGeNET | Detail |
| Myotonic dystrophy type 1 (DM1, Steinert's disease) is caused by a (CTG)n expansion in DMPK, while m... | DisGeNET | Detail |
| CUG repeat expansions in the 3' UTR of dystrophia myotonica protein kinase (DMPK) cause myotonic dys... | DisGeNET | Detail |
| Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystemic disorder caused by expansion ... | DisGeNET | Detail |
| Myotonic dystrophy type 1 (DM1) is the most common form of muscular dystrophy affecting adults and i... | DisGeNET | Detail |
| Identification and characterization of modified antisense oligonucleotides targeting DMPK in mice an... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | 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
- rs786200945 dbSNP
- Genome
- hg38
- Position
- chr19:45,769,717-45,782,496
- Variant Type
- snv
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