chr21:33036145:C>G Detail (hg19) (SOD1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr21:33,036,145-33,036,145 |
| hg38 | chr21:31,663,832-31,663,832 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000454.4:c.115C>G | NP_000445.1:p.Leu39Val |
| Ensemble | ENST00000270142.11:c.115C>G | ENST00000270142.11:p.Leu39Val |
| ENST00000389995.4:c.58C>G | ENST00000389995.4:p.Leu20Val |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2022-02-18 | criteria provided, single submitter | amyotrophic lateral sclerosis type 1 |
germline
|
Detail |
|
Pathogenic
Likely pathogenic
|
2023-08-08 | criteria provided, multiple submitters, no conflicts | not provided |
germline
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.520 | AMYOTROPHIC LATERAL SCLEROSIS 1 | NA | CLINVAR | Detail | |
| 0.022 | Neurodegenerative Disorders | Self-inactivation rates are further enhanced in a mutant SOD1 protein (L38V) lin... | BeFree | 12649272 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000454.5(SOD1):c.115C>G (p.Leu39Val) AND Amyotrophic lateral sclerosis type 1 | ClinVar | Detail |
| NM_000454.5(SOD1):c.115C>G (p.Leu39Val) AND not provided | ClinVar | Detail |
| NA | DisGeNET | Detail |
| Self-inactivation rates are further enhanced in a mutant SOD1 protein (L38V) linked to the fatal neu... | 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
- rs121912432 dbSNP
- Genome
- hg19
- Position
- chr21:33,036,145-33,036,145
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
Genome browser