chr10:88989499:G>T Detail (hg38) (ACTA2, FAS)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:90,749,256-90,749,256 View the variant detail on this assembly version. |
| hg38 | chr10:88,989,499-88,989,499 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | ||
| Ensemble | ENST00000415557.2:c.-24+1440C>A | |
| ENST00000458159.6:c.-24+1523C>A |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | ||
| Ensemble | ENST00000690268.1:c.31G>T | ENST00000690268.1:p.Ala11Ser |
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 |
|---|---|---|---|---|---|
| <0.001 | Squamous cell carcinoma of oropharynx | Thus, we determined the associations between four FAS and FASLG promoter variant... | BeFree | 25976983 | Detail |
| <0.001 | Squamous cell carcinoma of oropharynx | Thus, we determined the associations between four FAS and FASLG promoter variant... | BeFree | 25976983 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Thus, we determined the associations between four FAS and FASLG promoter variants (FAS1377G>A, rs... | DisGeNET | Detail |
| Thus, we determined the associations between four FAS and FASLG promoter variants (FAS1377G>A, rs... | 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
- rs2234767 dbSNP
- Genome
- hg38
- Position
- chr10:88,989,499-88,989,499
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
Genome browser