chr1:11022292:G>A Detail (hg38) (MASP2, TARDBP)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:11,082,349-11,082,349 View the variant detail on this assembly version. |
hg38 | chr1:11,022,292-11,022,292 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | ||
Ensemble | ENST00000700088.1:c.1397-99C>T |
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_007375.3:c.883G>A | NP_031401.1:p.Gly295Ser |
Ensemble | ENST00000240185.8:c.883G>A | ENST00000240185.8:p.Gly295Ser |
ENST00000315091.7:c.832+51G>A |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
![]() |
2009-04-01 | no assertion criteria provided | amyotrophic lateral sclerosis type 10 |
![]() |
Detail |
![]() |
2023-06-26 | criteria provided, single submitter | amyotrophic lateral sclerosis type 10,TARDBP-related frontotemporal dementia |
![]() |
Detail |
![]() |
2023-06-26 | criteria provided, single submitter | amyotrophic lateral sclerosis type 10,TARDBP-related frontotemporal dementia |
![]() |
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) | High frequency of TARDBP gene mutations in Italian patients with amyotrophic lat... | UNIPROT | 19224587 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_007375.4(TARDBP):c.883G>A (p.Gly295Ser) AND Amyotrophic lateral sclerosis type 10 | ClinVar | Detail |
NM_007375.4(TARDBP):c.883G>A (p.Gly295Ser) AND multiple conditions | ClinVar | Detail |
NM_007375.4(TARDBP):c.883G>A (p.Gly295Ser) AND multiple conditions | ClinVar | Detail |
NA | 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
- rs80356723 dbSNP
- Genome
- hg38
- Position
- chr1:11,022,292-11,022,292
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser