chr1:11082358:G>A Detail (hg19) (MASP2, TARDBP)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:11,082,358-11,082,358 |
| hg38 | chr1:11,022,301-11,022,301 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | ||
| Ensemble | ENST00000700088.1:c.1397-108C>T |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_007375.3:c.892G>A | NP_031401.1:p.Gly298Ser |
| Ensemble | ENST00000315091.7:c.832+60G>A | |
| ENST00000240185.8:c.892G>A | ENST00000240185.8:p.Gly298Ser |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
other |
germline
|
MGS000082
(TMGS000165) |
Kenjiro Kosaki Kenjiro Kosaki |
Keio University Mutation View |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
Likely pathogenic
|
2019-02-28 | no assertion criteria provided | amyotrophic lateral sclerosis type 10 |
germline
|
Detail |
|
Pathogenic
|
2018-06-22 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Pathogenic
|
2023-01-17 | criteria provided, single submitter | TARDBP-related frontotemporal dementia,amyotrophic lateral sclerosis type 10 |
germline
|
Detail |
|
Pathogenic
|
2023-01-17 | 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 |
|---|---|---|---|---|---|
| 0.240 | 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 |
| <0.001 | Central neuroblastoma | In the current study, we analyzed protein turnover and subcellular distribution ... | BeFree | 24477737 | Detail |
| <0.001 | neuroblastoma | In the current study, we analyzed protein turnover and subcellular distribution ... | BeFree | 24477737 | Detail |
| 0.007 | amyotrophic lateral sclerosis | Familial ALS with G298S mutation in TARDBP: a comparison of CSF tau protein leve... | BeFree | 20558945 | Detail |
| 0.380 | amyotrophic lateral sclerosis | Familial ALS with G298S mutation in TARDBP: a comparison of CSF tau protein leve... | BeFree | 20558945 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_007375.4(TARDBP):c.892G>A (p.Gly298Ser) AND Amyotrophic lateral sclerosis type 10 | ClinVar | Detail |
| NM_007375.4(TARDBP):c.892G>A (p.Gly298Ser) AND not provided | ClinVar | Detail |
| NM_007375.4(TARDBP):c.892G>A (p.Gly298Ser) AND multiple conditions | ClinVar | Detail |
| NM_007375.4(TARDBP):c.892G>A (p.Gly298Ser) AND multiple conditions | ClinVar | Detail |
| NA | DisGeNET | Detail |
| TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopat... | DisGeNET | Detail |
| In the current study, we analyzed protein turnover and subcellular distribution of wild-type TDP-43 ... | DisGeNET | Detail |
| In the current study, we analyzed protein turnover and subcellular distribution of wild-type TDP-43 ... | DisGeNET | Detail |
| Familial ALS with G298S mutation in TARDBP: a comparison of CSF tau protein levels with those in spo... | DisGeNET | Detail |
| Familial ALS with G298S mutation in TARDBP: a comparison of CSF tau protein levels with those in spo... | 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
- rs4884357 dbSNP
- Genome
- hg19
- Position
- chr1:11,082,358-11,082,358
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
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