chr12:65904251:C>T Detail (hg38) (HMGA2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:66,298,031-66,298,031 View the variant detail on this assembly version. |
| hg38 | chr12:65,904,251-65,904,251 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_003484.1:c.250-10808C>T | |
| NM_001300918.1:c.250-47132C>T | ||
| NM_003483.4:c.250-47132C>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.290 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.001 | glioblastoma | We identified LIG4 rs7325927 and BTBD2 rs11670188 as predictors of STS in GBM an... | BeFree | 20368557 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| We identified LIG4 rs7325927 and BTBD2 rs11670188 as predictors of STS in GBM and CCDC26 rs10464870 ... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs1563834 dbSNP
- Genome
- hg38
- Position
- chr12:65,904,251-65,904,251
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- 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))
- rs1563834
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.29
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 4861
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
Genome browser