chr21:33032131:G>A Detail (hg19) (SOD1, SOD1-DT)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr21:33,032,131-33,032,131 |
| hg38 | chr21:31,659,818-31,659,818 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000454.4:c.49G>A | NP_000445.1:p.Gly17Ser |
| Ensemble | ENST00000270142.11:c.49G>A | ENST00000270142.11:p.Gly17Ser |
| ENST00000389995.4:c.15+34G>A |
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
|
amyotrophic lateral sclerosis |
germline
|
MGS000082
(TMGS000165) |
Kenjiro Kosaki Kenjiro Kosaki |
Keio University Mutation View |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
1997-01-01 | no assertion criteria provided | amyotrophic lateral sclerosis type 1 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.520 | AMYOTROPHIC LATERAL SCLEROSIS 1 | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000454.5(SOD1):c.49G>A (p.Gly17Ser) AND Amyotrophic lateral sclerosis type 1 | ClinVar | Detail |
| NA | 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
- rs121912453 dbSNP
- Genome
- hg19
- Position
- chr21:33,032,131-33,032,131
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser