chr3:126137852:C>A Detail (hg38) (ALDH1L1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:125,856,695-125,856,695 View the variant detail on this assembly version. |
| hg38 | chr3:126,137,852-126,137,852 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001270364.1:c.1215G>T | NP_001257293.1:p.Leu405= |
| NR_072979.1:c.1185G>T | ||
| NM_012190.3:c.1185G>T | NP_036322.2:p.Leu395= |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.273 |
| ToMMo:0.278 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.218 |
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 |
|---|---|---|---|---|---|
| 0.128 | Lymphoma, Non-Hodgkin | A borderline significantly increased risk of NHL was also observed for CBS (rs18... | BeFree | 23913011 | Detail |
| <0.001 | Lymphoma, Large-Cell, Follicular | A borderline significantly increased risk of NHL was also observed for CBS (rs18... | BeFree | 23913011 | Detail |
| <0.001 | Lymphoma, Large-Cell, Follicular | A borderline significantly increased risk of NHL was also observed for CBS (rs18... | BeFree | 23913011 | Detail |
| <0.001 | Lymphoma, Non-Hodgkin | A borderline significantly increased risk of NHL was also observed for CBS (rs18... | BeFree | 23913011 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| A borderline significantly increased risk of NHL was also observed for CBS (rs1801181, Ex13+41C>T... | DisGeNET | Detail |
| A borderline significantly increased risk of NHL was also observed for CBS (rs1801181, Ex13+41C>T... | DisGeNET | Detail |
| A borderline significantly increased risk of NHL was also observed for CBS (rs1801181, Ex13+41C>T... | DisGeNET | Detail |
| A borderline significantly increased risk of NHL was also observed for CBS (rs1801181, Ex13+41C>T... | 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
- chr3:126,137,852-126,137,852
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1132
- Mean of sample read depth (HGVD)
- 30.47
- Standard deviation of sample read depth (HGVD)
- 13.32
- Number of reference allele (HGVD)
- 1645
- Number of alternative allele (HGVD)
- 619
- Allele Frequency (HGVD)
- 0.27340989399293286
- Gene Symbol (HGVD)
- ALDH1L1
- 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))
- rs2305230
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.2778
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 4656
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8636
- East Asian Allele Counts (ExAC)
- 1879
- East Asian Heterozygous Counts (ExAC)
- 1477
- East Asian Homozygous Counts (ExAC)
- 201
- East Asian Allele Frequency (ExAC)
- 0.21757758221398796
- Chromosome Counts in All Race (ExAC)
- 121200
- Allele Counts in All Race (ExAC)
- 20448
- Heterozygous Counts in All Race (ExAC)
- 16214
- Homozygous Counts in All Race (ExAC)
- 2117
- Allele Frequency in All Race (ExAC)
- 0.16871287128712872
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