chr21:33039587:G>C Detail (hg19) (SOD1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr21:33,039,587-33,039,587 |
| hg38 | chr21:31,667,274-31,667,274 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000454.4:c.256G>C | NP_000445.1:p.Gly86Arg |
| Ensemble | ENST00000270142.11:c.256G>C | ENST00000270142.11:p.Gly86Arg |
| ENST00000389995.4:c.199G>C | ENST00000389995.4:p.Gly67Arg |
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
|
2022-08-23 | criteria provided, single submitter | amyotrophic lateral sclerosis type 1 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.520 | AMYOTROPHIC LATERAL SCLEROSIS 1 | Transfection of these cell lines with DNA encoding two mutant SOD1 enzymes (G37R... | BeFree | 11181815 | Detail |
| 0.520 | AMYOTROPHIC LATERAL SCLEROSIS 1 | NA | CLINVAR | Detail | |
| 0.438 | amyotrophic lateral sclerosis | We have previously shown that several familial ALS-linked copper-zinc superoxide... | BeFree | 18515363 | Detail |
| <0.001 | Progressive Neoplastic Disease | ALS-linked SOD1 mutant G85R mediates damage to astrocytes and promotes rapidly p... | BeFree | 9052802 | Detail |
| 0.001 | Paresis | Transgenic mice carrying familial amyotrophic lateral sclerosis (FALS)-linked mu... | BeFree | 11860498 | Detail |
| <0.001 | Progressive cGVHD | ALS-linked SOD1 mutant G85R mediates damage to astrocytes and promotes rapidly p... | BeFree | 9052802 | Detail |
| 0.520 | AMYOTROPHIC LATERAL SCLEROSIS 1 | In the presence of several of these molecules, A4V and other FALS-linked SOD1 mu... | BeFree | 15738401 | Detail |
| 0.438 | amyotrophic lateral sclerosis | This work characterizes the properties of wild-type (WT) mouse motoneurons in th... | BeFree | 19828728 | Detail |
| 0.164 | motor neuron disease | Wild-type human SOD1 overexpression does not accelerate motor neuron disease in ... | BeFree | 20573565 | Detail |
| 0.520 | AMYOTROPHIC LATERAL SCLEROSIS 1 | Structures of the G85R variant of SOD1 in familial amyotrophic lateral sclerosis... | BeFree | 18378676 | Detail |
| <0.001 | Helminthiasis | C. elegans engineered to express human mSOD1 (G85R) in neurons develops locomoto... | BeFree | 22262909 | Detail |
| 0.520 | AMYOTROPHIC LATERAL SCLEROSIS 1 | Advanced glycation endproduct-modified superoxide dismutase-1 (SOD1)-positive in... | BeFree | 11045671 | Detail |
| 0.438 | amyotrophic lateral sclerosis | We studied the expression of mitochondrial uncoupling proteins (UCPs), key regul... | BeFree | 14500553 | Detail |
| 0.438 | amyotrophic lateral sclerosis | Astrocyte loss of mutant SOD1 delays ALS disease onset and progression in G85R t... | BeFree | 20962037 | Detail |
| 0.520 | AMYOTROPHIC LATERAL SCLEROSIS 1 | Disruption of the structure of the Golgi apparatus and the function of the secre... | BeFree | 15050437 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000454.5(SOD1):c.256G>C (p.Gly86Arg) AND Amyotrophic lateral sclerosis type 1 | ClinVar | Detail |
| Transfection of these cell lines with DNA encoding two mutant SOD1 enzymes (G37R and G85R) associate... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We have previously shown that several familial ALS-linked copper-zinc superoxide dismutase (SOD1) mu... | DisGeNET | Detail |
| ALS-linked SOD1 mutant G85R mediates damage to astrocytes and promotes rapidly progressive disease w... | DisGeNET | Detail |
| Transgenic mice carrying familial amyotrophic lateral sclerosis (FALS)-linked mutant Cu/Zn superoxid... | DisGeNET | Detail |
| ALS-linked SOD1 mutant G85R mediates damage to astrocytes and promotes rapidly progressive disease w... | DisGeNET | Detail |
| In the presence of several of these molecules, A4V and other FALS-linked SOD1 mutants such as G93A a... | DisGeNET | Detail |
| This work characterizes the properties of wild-type (WT) mouse motoneurons in the second postnatal w... | DisGeNET | Detail |
| Wild-type human SOD1 overexpression does not accelerate motor neuron disease in mice expressing muri... | DisGeNET | Detail |
| Structures of the G85R variant of SOD1 in familial amyotrophic lateral sclerosis. | DisGeNET | Detail |
| C. elegans engineered to express human mSOD1 (G85R) in neurons develops locomotor dysfunction and se... | DisGeNET | Detail |
| Advanced glycation endproduct-modified superoxide dismutase-1 (SOD1)-positive inclusions are common ... | DisGeNET | Detail |
| We studied the expression of mitochondrial uncoupling proteins (UCPs), key regulators of mitochondri... | DisGeNET | Detail |
| Astrocyte loss of mutant SOD1 delays ALS disease onset and progression in G85R transgenic mice. | DisGeNET | Detail |
| Disruption of the structure of the Golgi apparatus and the function of the secretory pathway by muta... | 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
- rs121912436 dbSNP
- Genome
- hg19
- Position
- chr21:33,039,587-33,039,587
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
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