chr10:110810449:C>T Detail (hg38) (RBM20)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:112,570,207-112,570,207 View the variant detail on this assembly version. |
| hg38 | chr10:110,810,449-110,810,449 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001134363.2:c.1867C>T | NP_001127835.2:p.Arg623Trp |
| Ensemble | ENST00000369519.4:c.1867C>T | ENST00000369519.4:p.Arg623Trp |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance | Conflicting classifications of pathogenicity |
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Conflicting interpretations of pathogenicity
|
2020-01-21 | criteria provided, conflicting interpretations | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.120 | Cardiomyopathies | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001134363.3(RBM20):c.1867C>T (p.Arg623Trp) AND not provided | ClinVar | 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
- rs794729148 dbSNP
- Genome
- hg38
- Position
- chr10:110,810,449-110,810,449
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser