chr10:112572056:G>A Detail (hg19) (RBM20)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:112,572,056-112,572,056 |
| hg38 | chr10:110,812,298-110,812,298 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001134363.2:c.1901G>A | NP_001127835.2:p.Arg634Gln |
| Ensemble | ENST00000369519.4:c.1901G>A | ENST00000369519.4:p.Arg634Gln |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2023-12-25 | criteria provided, multiple submitters, no conflicts | dilated cardiomyopathy 1DD |
de novo
germline
unknown
|
Detail |
|
Pathogenic
|
2022-03-18 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Likely pathogenic
|
2023-04-27 | criteria provided, single submitter |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.120 | Cardiomyopathies | NA | CLINVAR | Detail | |
| 0.360 | Cardiomyopathy, Dilated, 1DD | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001134363.3(RBM20):c.1901G>A (p.Arg634Gln) AND Dilated cardiomyopathy 1DD | ClinVar | Detail |
| NM_001134363.3(RBM20):c.1901G>A (p.Arg634Gln) AND not provided | ClinVar | Detail |
| NM_001134363.3(RBM20):c.1901G>A (p.Arg634Gln) AND Cardiovascular phenotype | ClinVar | 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
- rs267607001 dbSNP
- Genome
- hg19
- Position
- chr10:112,572,056-112,572,056
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser