chr1:11082347:G>A Detail (hg19) (MASP2, TARDBP)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:11,082,347-11,082,347 |
| hg38 | chr1:11,022,290-11,022,290 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | ||
| Ensemble | ENST00000700088.1:c.1397-97C>T |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_007375.3:c.881G>A | NP_031401.1:p.Gly294Glu |
| Ensemble | ENST00000240185.8:c.881G>A | ENST00000240185.8:p.Gly294Glu |
| ENST00000621790.4:c.859+22G>A |
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 | |
| Review star | [No Data.] |
| 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) | NA | CLINVAR | Detail | |
| 0.240 | AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) | Genetic variants in the promoter of TARDBP in sporadic amyotrophic lateral scler... | UNIPROT | 19695877 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| Genetic variants in the promoter of TARDBP in sporadic 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
- -
- Genome
- hg19
- Position
- chr1:11,082,347-11,082,347
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8654
- 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)
- 121406
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.236825198095647E-6
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