chr10:112572068:C>T Detail (hg19) (RBM20)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:112,572,068-112,572,068 |
| hg38 | chr10:110,812,310-110,812,310 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001134363.2:c.1913C>T | NP_001127835.2:p.Pro638Leu |
| Ensemble | ENST00000369519.4:c.1913C>T | ENST00000369519.4:p.Pro638Leu |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2023-10-24 | criteria provided, multiple submitters, no conflicts | dilated cardiomyopathy 1DD |
germline
unknown
|
Detail |
|
Pathogenic
|
2022-07-26 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Pathogenic
|
2014-12-16 | criteria provided, single submitter | Primary dilated cardiomyopathy |
germline
|
Detail |
|
Pathogenic
|
2016-05-01 | no assertion criteria provided | dilated cardiomyopathy 1S |
inherited
|
Detail |
|
Pathogenic
|
2021-07-01 | criteria provided, single submitter |
germline
|
Detail | |
|
Pathogenic
|
2020-05-04 | criteria provided, single submitter | dilated cardiomyopathy 1A |
germline
|
Detail |
|
Pathogenic
|
2023-06-12 | criteria provided, single submitter | RBM20-related disorder |
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.1913C>T (p.Pro638Leu) AND Dilated cardiomyopathy 1DD | ClinVar | Detail |
| NM_001134363.3(RBM20):c.1913C>T (p.Pro638Leu) AND not provided | ClinVar | Detail |
| NM_001134363.3(RBM20):c.1913C>T (p.Pro638Leu) AND Primary dilated cardiomyopathy | ClinVar | Detail |
| NM_001134363.3(RBM20):c.1913C>T (p.Pro638Leu) AND Dilated cardiomyopathy 1S | ClinVar | Detail |
| NM_001134363.3(RBM20):c.1913C>T (p.Pro638Leu) AND Cardiovascular phenotype | ClinVar | Detail |
| NM_001134363.3(RBM20):c.1913C>T (p.Pro638Leu) AND Dilated cardiomyopathy 1A | ClinVar | Detail |
| NM_001134363.3(RBM20):c.1913C>T (p.Pro638Leu) AND RBM20-related disorder | 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
- rs267607003 dbSNP
- Genome
- hg19
- Position
- chr10:112,572,068-112,572,068
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser