chr1:11022278:G>C Detail (hg38) (MASP2, TARDBP)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:11,082,335-11,082,335 View the variant detail on this assembly version. |
| hg38 | chr1:11,022,278-11,022,278 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | ||
| Ensemble | ENST00000700088.1:c.1397-85C>G |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_007375.3:c.869G>C | NP_031401.1:p.Gly290Ala |
| Ensemble | ENST00000240185.8:c.869G>C | ENST00000240185.8:p.Gly290Ala |
| ENST00000315091.7:c.832+37G>C |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2008-05-01 | no assertion criteria provided | amyotrophic lateral sclerosis type 10 |
germline
|
Detail |
|
Uncertain significance
|
2019-03-25 | criteria provided, single submitter | TARDBP-related frontotemporal dementia,amyotrophic lateral sclerosis type 10 |
germline
|
Detail |
|
Uncertain significance
|
2019-03-25 | criteria provided, single submitter | TARDBP-related frontotemporal dementia,amyotrophic lateral sclerosis type 10 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.380 | amyotrophic lateral sclerosis | Expression of normal human TDP-43 in all C. elegans neurons causes moderate moto... | BeFree | 21123567 | Detail |
| 0.240 | AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) | NA | CLINVAR | Detail | |
| 0.240 | AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) | TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a ... | UNIPROT | 18396105 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_007375.4(TARDBP):c.869G>C (p.Gly290Ala) AND Amyotrophic lateral sclerosis type 10 | ClinVar | Detail |
| NM_007375.4(TARDBP):c.869G>C (p.Gly290Ala) AND multiple conditions | ClinVar | Detail |
| NM_007375.4(TARDBP):c.869G>C (p.Gly290Ala) AND multiple conditions | ClinVar | Detail |
| Expression of normal human TDP-43 in all C. elegans neurons causes moderate motor defects, whereas A... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopat... | 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
- rs121908395 dbSNP
- Genome
- hg38
- Position
- chr1:11,022,278-11,022,278
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
Genome browser