chr20:44643111:G>C Detail (hg19) (MMP9)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr20:44,643,111-44,643,111 |
| hg38 | chr20:46,014,472-46,014,472 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004994.2:c.2003G>C | NP_004985.2:p.Arg668Pro |
| Ensemble | ENST00000372330.3:c.2003G>C | ENST00000372330.3:p.Arg668Pro |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.011 | 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 |
| 0.001 | gallbladder carcinoma | Multidimensional reduction analysis revealed LXR-β (rs3546355 G > A, rs269512... | BeFree | 24863943 | Detail |
| <0.001 | gallbladder carcinoma | Multidimensional reduction analysis revealed LXR-β (rs3546355 G > A, rs269512... | BeFree | 24863943 | Detail |
| <0.001 | Malignant neoplasm of gallbladder | Multidimensional reduction analysis revealed LXR-β (rs3546355 G > A, rs269512... | BeFree | 24863943 | Detail |
| 0.163 | squamous cell carcinoma | This study provides evidence for the contribution of the MMP9 Arg668Gln to SCC d... | BeFree | 19064570 | Detail |
| 0.001 | Malignant neoplasm of gallbladder | Multidimensional reduction analysis revealed LXR-β (rs3546355 G > A, rs269512... | BeFree | 24863943 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| 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 |
| Multidimensional reduction analysis revealed LXR-β (rs3546355 G > A, rs2695121 T > C), MMP-2 (... | DisGeNET | Detail |
| Multidimensional reduction analysis revealed LXR-β (rs3546355 G > A, rs2695121 T > C), MMP-2 (... | DisGeNET | Detail |
| Multidimensional reduction analysis revealed LXR-β (rs3546355 G > A, rs2695121 T > C), MMP-2 (... | DisGeNET | Detail |
| This study provides evidence for the contribution of the MMP9 Arg668Gln to SCC development. | DisGeNET | Detail |
| Multidimensional reduction analysis revealed LXR-β (rs3546355 G > A, rs2695121 T > C), MMP-2 (... | 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
- rs17577 dbSNP
- Genome
- hg19
- Position
- chr20:44,643,111-44,643,111
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
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