chr20:46013767:G>T Detail (hg38) (MMP9, SLC12A5-AS1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr20:44,642,406-44,642,406 View the variant detail on this assembly version. |
| hg38 | chr20:46,013,767-46,013,767 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004994.2:c.1721G>T | NP_004985.2:p.Arg574Leu |
| Ensemble | ENST00000372330.3:c.1721G>T | ENST00000372330.3:p.Arg574Leu |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Uncertain significance
|
2023-12-13 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.011 | coronary artery disease | We explored the association of MMP2 (C-735T, rs2285053), MMP7 (A-181G, rs1156881... | BeFree | 22664146 | Detail |
| 0.030 | coronary artery disease | These findings suggest that MMP-9 R279Q, P574R and R668Q may have combined effec... | BeFree | 19283512 | Detail |
| 0.002 | Squamous cell carcinoma of esophagus | Our study shows for the first time that MMP-9 gene P574R polymorphism may contri... | BeFree | 18680431 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_004994.3(MMP9):c.1721G>T (p.Arg574Leu) AND not provided | ClinVar | Detail |
| We explored the association of MMP2 (C-735T, rs2285053), MMP7 (A-181G, rs11568818) and MMP9 (R279Q, ... | DisGeNET | Detail |
| These findings suggest that MMP-9 R279Q, P574R and R668Q may have combined effect in the occurrence ... | DisGeNET | Detail |
| Our study shows for the first time that MMP-9 gene P574R polymorphism may contribute to a genetic ri... | 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
- chr20:46,013,767-46,013,767
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8616
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 120918
- Allele Counts in All Race (ExAC)
- 5
- Heterozygous Counts in All Race (ExAC)
- 0
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 4.1350336591739854E-5
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