chr21:33039633:A>G Detail (hg19) (SOD1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr21:33,039,633-33,039,633 |
| hg38 | chr21:31,667,320-31,667,320 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000454.4:c.302A>G | NP_000445.1:p.Glu101Gly |
| Ensemble | ENST00000270142.11:c.302A>G | ENST00000270142.11:p.Glu101Gly |
| ENST00000389995.4:c.245A>G | ENST00000389995.4:p.Glu82Gly |
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
|
2023-07-17 | criteria provided, single submitter | amyotrophic lateral sclerosis type 1 |
germline
|
Detail |
|
Pathogenic
|
2016-08-31 | criteria provided, single submitter | motor neuron disease |
unknown
|
Detail |
|
Pathogenic
|
2023-07-24 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.520 | AMYOTROPHIC LATERAL SCLEROSIS 1 | NA | CLINVAR | Detail | |
| 0.520 | AMYOTROPHIC LATERAL SCLEROSIS 1 | Prognosis in familial amyotrophic lateral sclerosis: progression and survival in... | BeFree | 9008494 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000454.5(SOD1):c.302A>G (p.Glu101Gly) AND Amyotrophic lateral sclerosis type 1 | ClinVar | Detail |
| NM_000454.5(SOD1):c.302A>G (p.Glu101Gly) AND Motor neuron disease | ClinVar | Detail |
| NM_000454.5(SOD1):c.302A>G (p.Glu101Gly) AND not provided | ClinVar | Detail |
| NA | DisGeNET | Detail |
| Prognosis in familial amyotrophic lateral sclerosis: progression and survival in patients with glu10... | 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
- rs121912439 dbSNP
- Genome
- hg19
- Position
- chr21:33,039,633-33,039,633
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser