chr14:64227153:G>C Detail (hg38) (ESR2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr14:64,693,871-64,693,871 View the variant detail on this assembly version. |
| hg38 | chr14:64,227,153-64,227,153 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001040275.1:c.*380C>G | |
| NM_001291712.1:c.*380C>G | ||
| Ensemble | ENST00000353772.7:c.*380C>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.425 | |
| 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 |
|---|---|---|---|---|---|
| 0.002 | endometrial carcinoma | Our data suggest that the ESR1 (rs2234693 and rs9340799) and the ESR2 (rs1255998... | BeFree | 19438492 | Detail |
| 0.002 | Malignant neoplasm of endometrium | Our data suggest that the ESR1 (rs2234693 and rs9340799) and the ESR2 (rs1255998... | BeFree | 19438492 | Detail |
| 0.002 | uterine corpus cancer | Our data suggest that the ESR1 (rs2234693 and rs9340799) and the ESR2 (rs1255998... | BeFree | 19438492 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Our data suggest that the ESR1 (rs2234693 and rs9340799) and the ESR2 (rs1255998 and rs944050) polym... | DisGeNET | Detail |
| Our data suggest that the ESR1 (rs2234693 and rs9340799) and the ESR2 (rs1255998 and rs944050) polym... | DisGeNET | Detail |
| Our data suggest that the ESR1 (rs2234693 and rs9340799) and the ESR2 (rs1255998 and rs944050) polym... | 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
- rs1255998 dbSNP
- Genome
- hg38
- Position
- chr14:64,227,153-64,227,153
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
- 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))
- rs1255998
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.425
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 7123
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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