chr1:11022268:G>C Detail (hg38) (MASP2, TARDBP)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:11,082,325-11,082,325 View the variant detail on this assembly version. |
| hg38 | chr1:11,022,268-11,022,268 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | ||
| Ensemble | ENST00000700088.1:c.1397-75C>G |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_007375.3:c.859G>C | NP_031401.1:p.Gly287Arg |
| Ensemble | ENST00000240185.8:c.859G>C | ENST00000240185.8:p.Gly287Arg |
| ENST00000315091.7:c.832+27G>C |
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 |
|---|---|---|---|---|---|
| 0.380 | amyotrophic lateral sclerosis | 1.6% of patients carried multiple known/potential disease variants, including al... | BeFree | 23881933 | Detail |
| 0.240 | AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) | High frequency of TARDBP gene mutations in Italian patients with amyotrophic lat... | UNIPROT | 19224587 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| 1.6% of patients carried multiple known/potential disease variants, including all identified carrier... | DisGeNET | Detail |
| High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis. | 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
- rs80356719 dbSNP
- Genome
- hg38
- Position
- chr1:11,022,268-11,022,268
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
Genome browser