chr10:112572113:C>T Detail (hg19) (RBM20)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:112,572,113-112,572,113 |
| hg38 | chr10:110,812,355-110,812,355 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001134363.2:c.1958C>T | NP_001127835.2:p.Thr653Ile |
| Ensemble | ENST00000369519.4:c.1958C>T | ENST00000369519.4:p.Thr653Ile |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
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 |
|---|---|---|---|---|---|
Uncertain significance
|
2015-11-19 | criteria provided, single submitter | not specified |
germline
|
Detail |
|
Uncertain significance
|
2022-11-16 | criteria provided, single submitter | not provided |
germline
|
Detail |
Conflicting interpretations of pathogenicity
|
2024-01-24 | criteria provided, conflicting interpretations | dilated cardiomyopathy 1DD |
germline
|
Detail |
Likely benign
|
2023-05-16 | criteria provided, single submitter |
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.1958C>T (p.Thr653Ile) AND not specified | ClinVar | Detail |
| NM_001134363.3(RBM20):c.1958C>T (p.Thr653Ile) AND not provided | ClinVar | Detail |
| NM_001134363.3(RBM20):c.1958C>T (p.Thr653Ile) AND Dilated cardiomyopathy 1DD | ClinVar | Detail |
| NM_001134363.3(RBM20):c.1958C>T (p.Thr653Ile) AND Cardiovascular phenotype | 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
- rs727505310 dbSNP
- Genome
- hg19
- Position
- chr10:112,572,113-112,572,113
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 410
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 17816
- Allele Counts in All Race (ExAC)
- 3
- Heterozygous Counts in All Race (ExAC)
- 3
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 1.6838796587337226E-4
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