chr17:18231998:G>A Detail (hg19) (SHMT1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:18,231,998-18,231,998 |
| hg38 | chr17:18,328,684-18,328,684 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004169.4:c.*66C>T | |
| NM_148918.2:c.*66C>T | ||
| Ensemble | ENST00000316694.8:c.*66C>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.088 | |
| 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 |
|---|---|---|---|---|---|
| 0.128 | 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
- -
- dbSNP
- rs1979276 dbSNP
- Genome
- hg19
- Position
- chr17:18,231,998-18,231,998
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- 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))
- rs1979276
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0884
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1481
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
Genome browser