chr21:33036155:G>A Detail (hg19) (SOD1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr21:33,036,155-33,036,155 |
| hg38 | chr21:31,663,842-31,663,842 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000454.4:c.125G>A | NP_000445.1:p.Gly42Asp |
| Ensemble | ENST00000270142.11:c.125G>A | ENST00000270142.11:p.Gly42Asp |
| ENST00000389995.4:c.68G>A | ENST00000389995.4:p.Gly23Asp |
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 |
|---|---|---|---|---|---|
Pathogenic
|
2023-07-24 | criteria provided, multiple submitters, no conflicts | amyotrophic lateral sclerosis type 1 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | AMYOTROPHIC LATERAL SCLEROSIS 1 | Herein, we demonstrate that the entry of SOD1 into mitochondria depends on demet... | BeFree | 12060716 | Detail |
| 0.520 | AMYOTROPHIC LATERAL SCLEROSIS 1 | NA | CLINVAR | Detail | |
| 0.520 | AMYOTROPHIC LATERAL SCLEROSIS 1 | Herein, we demonstrate that the entry of SOD1 into mitochondria depends on demet... | BeFree | 12060716 | Detail |
| <0.001 | AMYOTROPHIC LATERAL SCLEROSIS 1 | Herein, we demonstrate that the entry of SOD1 into mitochondria depends on demet... | BeFree | 12060716 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000454.5(SOD1):c.125G>A (p.Gly42Asp) AND Amyotrophic lateral sclerosis type 1 | ClinVar | Detail |
| Herein, we demonstrate that the entry of SOD1 into mitochondria depends on demetallation and that he... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Herein, we demonstrate that the entry of SOD1 into mitochondria depends on demetallation and that he... | DisGeNET | Detail |
| Herein, we demonstrate that the entry of SOD1 into mitochondria depends on demetallation and that he... | 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
- rs121912434 dbSNP
- Genome
- hg19
- Position
- chr21:33,036,155-33,036,155
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser