chr10:112595719:G>C Detail (hg19) (RBM20)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:112,595,719-112,595,719 |
| hg38 | chr10:110,835,961-110,835,961 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001134363.2:c.3667G>C | NP_001127835.2:p.Glu1223Gln |
| Ensemble | ENST00000369519.4:c.3667G>C | ENST00000369519.4:p.Glu1223Gln |
Summary
MGeND
| Clinical significance |
Benign
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.752 |
| ToMMo:0.740 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.794 |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Benign
|
Centenarian |
germline
|
MGS000068
(TMGS000140) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2016-05-13 | criteria provided, multiple submitters, no conflicts | not specified |
germline
|
Detail |
|
Benign
|
2015-03-11 | criteria provided, single submitter |
germline
|
Detail | |
|
Benign
|
2024-02-01 | criteria provided, multiple submitters, no conflicts | dilated cardiomyopathy 1DD |
germline
|
Detail |
|
Benign
|
2022-09-27 | no assertion criteria provided | Primary dilated cardiomyopathy |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001134363.3(RBM20):c.3667G>C (p.Glu1223Gln) AND not specified | ClinVar | Detail |
| NM_001134363.3(RBM20):c.3667G>C (p.Glu1223Gln) AND Cardiovascular phenotype | ClinVar | Detail |
| NM_001134363.3(RBM20):c.3667G>C (p.Glu1223Gln) AND Dilated cardiomyopathy 1DD | ClinVar | Detail |
| NM_001134363.3(RBM20):c.3667G>C (p.Glu1223Gln) AND Primary dilated cardiomyopathy | ClinVar | 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
- rs942077 dbSNP
- Genome
- hg19
- Position
- chr10:112,595,719-112,595,719
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1142
- Mean of sample read depth (HGVD)
- 93.40
- Standard deviation of sample read depth (HGVD)
- 44.55
- Number of reference allele (HGVD)
- 565
- Number of alternative allele (HGVD)
- 1715
- Allele Frequency (HGVD)
- 0.7521929824561403
- Gene Symbol (HGVD)
- RBM20
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs942077
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.7397
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 12398
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 620
- East Asian Allele Counts (ExAC)
- 492
- East Asian Heterozygous Counts (ExAC)
- 96
- East Asian Homozygous Counts (ExAC)
- 198
- East Asian Allele Frequency (ExAC)
- 0.7935483870967742
- Chromosome Counts in All Race (ExAC)
- 19042
- Allele Counts in All Race (ExAC)
- 14542
- Heterozygous Counts in All Race (ExAC)
- 3273
- Homozygous Counts in All Race (ExAC)
- 5634
- Allele Frequency in All Race (ExAC)
- 0.7636802856842768
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