chr12:56088396:T>G Detail (hg38) (ERBB3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:56,482,180-56,482,180 View the variant detail on this assembly version. |
| hg38 | chr12:56,088,396-56,088,396 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001982.3:c.875-147T>G | |
| Ensemble | ENST00000267101.8:c.875-147T>G | |
| ENST00000415288.6:c.698-147T>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.807 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2018-11-11 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | diabetes mellitus | Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=52... | BeFree | 26320593 | Detail |
| <0.001 | diabetes mellitus | Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=52... | BeFree | 26320593 | Detail |
| <0.001 | Adult type dermatomyositis | Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=52... | BeFree | 26320593 | Detail |
| <0.001 | dermatomyositis | Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=52... | BeFree | 26320593 | Detail |
| <0.001 | Adult type dermatomyositis | Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=52... | BeFree | 26320593 | Detail |
| 0.003 | dermatomyositis | Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=52... | BeFree | 26320593 | Detail |
| <0.001 | diabetes mellitus | Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=52... | BeFree | 26320593 | Detail |
| <0.001 | polymyositis | Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=52... | BeFree | 26320593 | Detail |
| <0.001 | polymyositis | Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=52... | BeFree | 26320593 | Detail |
| 0.160 | Diabetes Mellitus, Insulin-Dependent | Meta-analysis of genome-wide association study data identifies additional type 1... | GWASCAT | 18978792 | Detail |
| 0.160 | Diabetes Mellitus, Insulin-Dependent | [Furthermore, a joint analysis, with the INS and CTLA4 SNPs, revealed that CTLA4... | GAD | 18940880 | Detail |
| 0.160 | Diabetes Mellitus, Insulin-Dependent | [Genome-wide association analysis of autoantibody positivity in type 1 diabetes ... | GAD | 21829393 | Detail |
| 0.160 | Diabetes Mellitus, Insulin-Dependent | Robust associations of four new chromosome regions from genome-wide analyses of ... | GWASCAT | 17554260 | Detail |
| 0.160 | Diabetes Mellitus, Insulin-Dependent | Genome-wide association study and meta-analysis find that over 40 loci affect ri... | GWASCAT | 19430480 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001982.4(ERBB3):c.875-147T>G AND not provided | ClinVar | Detail |
| Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-ma... | DisGeNET | Detail |
| Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-ma... | DisGeNET | Detail |
| Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-ma... | DisGeNET | Detail |
| Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-ma... | DisGeNET | Detail |
| Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-ma... | DisGeNET | Detail |
| Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-ma... | DisGeNET | Detail |
| Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-ma... | DisGeNET | Detail |
| Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-ma... | DisGeNET | Detail |
| Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-ma... | DisGeNET | Detail |
| Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. | DisGeNET | Detail |
| [Furthermore, a joint analysis, with the INS and CTLA4 SNPs, revealed that CTLA4 rs3087243, ERBB3 rs... | DisGeNET | Detail |
| [Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.] | DisGeNET | Detail |
| Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. | DisGeNET | Detail |
| Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabete... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs2292239 dbSNP
- Genome
- hg38
- Position
- chr12:56,088,396-56,088,396
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- G
- 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))
- rs2292239
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.8069
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 13523
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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