chr21:31659789:G>T Detail (hg38) (SOD1, SOD1-DT)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr21:33,032,102-33,032,102 View the variant detail on this assembly version. |
| hg38 | chr21:31,659,789-31,659,789 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000454.4:c.20G>T | NP_000445.1:p.Cys7Phe |
| Ensemble | ENST00000270142.11:c.20G>T | ENST00000270142.11:p.Cys7Phe |
| ENST00000389995.4:c.15+5G>T |
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
|
1996-02-23 | 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 | |
| <0.001 | amyotrophic lateral sclerosis | We have identified a novel two-base mutation in exon 1 of the Cu/Zn superoxide d... | BeFree | 8907321 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000454.5(SOD1):c.20G>T (p.Cys7Phe) AND Amyotrophic lateral sclerosis type 1 | ClinVar | Detail |
| NA | DisGeNET | Detail |
| We have identified a novel two-base mutation in exon 1 of the Cu/Zn superoxide dismutase (SOD1) gene... | 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
- rs121912448 dbSNP
- Genome
- hg38
- Position
- chr21:31,659,789-31,659,789
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
Genome browser