chr14:64233327:T>C Detail (hg38) (ESR2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr14:64,700,045-64,700,045 View the variant detail on this assembly version. |
hg38 | chr14:64,233,327-64,233,327 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001271877.1:c.1134-4A>G | |
NM_001437.2:c.1407-4A>G | ||
NM_001040275.1:c.1406+1643A>G |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:0.357 |
ToMMo:0.353 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.468 |
Prediction
ClinVar
Clinical Significance |
![]() |
Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
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 |
---|---|---|
NM_001437.3(ESR2):c.1407-4A>G AND not provided | ClinVar | Detail |
NM_001437.3(ESR2):c.1407-4A>G AND ESR2-related disorder | ClinVar | 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 |
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
- rs944050 dbSNP
- Genome
- hg38
- Position
- chr14:64,233,327-64,233,327
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 104.96
- Standard deviation of sample read depth (HGVD)
- 51.22
- Number of reference allele (HGVD)
- 1555
- Number of alternative allele (HGVD)
- 865
- Allele Frequency (HGVD)
- 0.3574380165289256
- Gene Symbol (HGVD)
- ESR2
- 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))
- rs944050
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3526
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 5909
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8632
- East Asian Allele Counts (ExAC)
- 4043
- East Asian Heterozygous Counts (ExAC)
- 2127
- East Asian Homozygous Counts (ExAC)
- 958
- East Asian Allele Frequency (ExAC)
- 0.4683734939759036
- Chromosome Counts in All Race (ExAC)
- 119880
- Allele Counts in All Race (ExAC)
- 10984
- Heterozygous Counts in All Race (ExAC)
- 8318
- Homozygous Counts in All Race (ExAC)
- 1333
- Allele Frequency in All Race (ExAC)
- 0.09162495829162495
Genome browser