chr1:11082470:G>A Detail (hg19) (MASP2, TARDBP)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:11,082,470-11,082,470 |
hg38 | chr1:11,022,413-11,022,413 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | ||
Ensemble | ENST00000700088.1:c.1397-220C>T |
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_007375.3:c.1004G>A | NP_031401.1:p.Gly335Asp |
Ensemble | ENST00000639083.1:c.1004G>A | ENST00000639083.1:p.Gly335Asp |
ENST00000616545.4:c.841+163G>A |
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 |
---|---|---|---|---|---|
0.240 | 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 |
---|---|---|
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
- rs80356729 dbSNP
- Genome
- hg19
- Position
- chr1:11,082,470-11,082,470
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser