chr1:182582202:A>C Detail (hg38) (RNASEL)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:182,551,337-182,551,337 View the variant detail on this assembly version. |
| hg38 | chr1:182,582,202-182,582,202 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_021133.3:c.1623T>G | NP_066956.1:p.Asp541Glu |
| Ensemble | ENST00000367559.7:c.1623T>G | ENST00000367559.7:p.Asp541Glu |
| ENST00000539397.1:c.1623T>G | ENST00000539397.1:p.Asp541Glu |
Summary
MGeND
| Clinical significance |
Benign
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.710 |
| ToMMo:0.705 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.722 |
Prediction
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Benign
|
Centenarian |
germline
|
MGS000068
(TMGS000140) |
Kenjiro Kosaki | Keio University |
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | Metastatic Prostate Carcinoma | We examined polymorphisms within ELAC2 (S217L, A541T, E622V), MSR1 (P275A, R293X... | BeFree | 16114055 | Detail |
| <0.001 | Metastatic Prostate Carcinoma | We examined polymorphisms within ELAC2 (S217L, A541T, E622V), MSR1 (P275A, R293X... | BeFree | 16114055 | Detail |
| 0.062 | Malignant neoplasm of prostate | We examined polymorphisms within ELAC2 (S217L, A541T, E622V), MSR1 (P275A, R293X... | BeFree | 16114055 | Detail |
| 0.364 | Prostate cancer, familial | Genotyping of HPC2/ELAC2 variants (S217L, A541T), along with RNASEL variants (R4... | BeFree | 18767027 | Detail |
| 0.062 | Malignant neoplasm of prostate | RNASEL Asp541Glu and Arg462Gln polymorphisms in prostate cancer risk: evidences ... | BeFree | 21656378 | Detail |
| 0.014 | prostate carcinoma | RNASEL Asp541Glu and Arg462Gln polymorphisms in prostate cancer risk: evidences ... | BeFree | 21656378 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| We examined polymorphisms within ELAC2 (S217L, A541T, E622V), MSR1 (P275A, R293X, aIVS5-59c), and RN... | DisGeNET | Detail |
| We examined polymorphisms within ELAC2 (S217L, A541T, E622V), MSR1 (P275A, R293X, aIVS5-59c), and RN... | DisGeNET | Detail |
| We examined polymorphisms within ELAC2 (S217L, A541T, E622V), MSR1 (P275A, R293X, aIVS5-59c), and RN... | DisGeNET | Detail |
| Genotyping of HPC2/ELAC2 variants (S217L, A541T), along with RNASEL variants (R462Q and E541D) was c... | DisGeNET | Detail |
| RNASEL Asp541Glu and Arg462Gln polymorphisms in prostate cancer risk: evidences from a meta-analysis... | DisGeNET | Detail |
| RNASEL Asp541Glu and Arg462Gln polymorphisms in prostate cancer risk: evidences from a meta-analysis... | 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
- -
- Genome
- hg38
- Position
- chr1:182,582,202-182,582,202
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 86.63
- Standard deviation of sample read depth (HGVD)
- 40.13
- Number of reference allele (HGVD)
- 703
- Number of alternative allele (HGVD)
- 1717
- Allele Frequency (HGVD)
- 0.709504132231405
- Gene Symbol (HGVD)
- RNASEL
- 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))
- rs627928
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.7054
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 11823
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8650
- East Asian Allele Counts (ExAC)
- 6242
- East Asian Heterozygous Counts (ExAC)
- 1698
- East Asian Homozygous Counts (ExAC)
- 2272
- East Asian Allele Frequency (ExAC)
- 0.7216184971098266
- Chromosome Counts in All Race (ExAC)
- 121382
- Allele Counts in All Race (ExAC)
- 65302
- Heterozygous Counts in All Race (ExAC)
- 29134
- Homozygous Counts in All Race (ExAC)
- 18084
- Allele Frequency in All Race (ExAC)
- 0.5379875105040286
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