chr12:4273870:C>T Detail (hg38) (CCND2, CCND2-AS1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:4,383,036-4,383,036 View the variant detail on this assembly version. |
| hg38 | chr12:4,273,870-4,273,870 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001759.3:c.-171C>T | |
| Ensemble | ENST00000261254.8:c.-171C>T | |
| ENST00000675880.1:c.-171C>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.584 | |
| 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
|
2018-06-14 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | Hepatocarcinogenesis | These included novel SNPs for hepatocarcinogenesis with HCV CCND2 rs1049606, RAD... | BeFree | 22004425 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001759.4(CCND2):c.-171C>T AND not provided | ClinVar | Detail |
| These included novel SNPs for hepatocarcinogenesis with HCV CCND2 rs1049606, RAD23B rs1805329, CEP16... | 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
- rs1049606 dbSNP
- Genome
- hg38
- Position
- chr12:4,273,870-4,273,870
- 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))
- rs1049606
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.5841
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 9788
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
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