chr21:31663848:A>G Detail (hg38) (SOD1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr21:33,036,161-33,036,161 View the variant detail on this assembly version. |
| hg38 | chr21:31,663,848-31,663,848 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000454.4:c.131A>G | NP_000445.1:p.His44Arg |
| Ensemble | ENST00000270142.11:c.131A>G | ENST00000270142.11:p.His44Arg |
| ENST00000389995.4:c.74A>G | ENST00000389995.4:p.His25Arg |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 2 |
| 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
|
MGS000009
(TMGS000039) |
Shoji Tsuji | Tokyo University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2023-12-05 | criteria provided, single submitter | amyotrophic lateral sclerosis type 1 |
germline
|
Detail |
|
Pathogenic
|
2021-10-18 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Pathogenic
|
2022-08-05 | criteria provided, single submitter | amyotrophic lateral sclerosis type 10 |
germline
|
Detail |
|
Pathogenic
|
2023-07-28 | criteria provided, single submitter | SOD1-related disorder |
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 | In this study, we have carried out a 20 ns molecular dynamics simulation for wil... | BeFree | 24369116 | Detail |
| 0.438 | amyotrophic lateral sclerosis | Pro-oxidant copper-binding mode of the Apo form of ALS-linked SOD1 mutant H43R d... | BeFree | 23837654 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000454.5(SOD1):c.131A>G (p.His44Arg) AND Amyotrophic lateral sclerosis type 1 | ClinVar | Detail |
| NM_000454.5(SOD1):c.131A>G (p.His44Arg) AND not provided | ClinVar | Detail |
| NM_000454.5(SOD1):c.131A>G (p.His44Arg) AND Amyotrophic lateral sclerosis type 10 | ClinVar | Detail |
| NM_000454.5(SOD1):c.131A>G (p.His44Arg) AND SOD1-related disorder | ClinVar | Detail |
| NA | DisGeNET | Detail |
| In this study, we have carried out a 20 ns molecular dynamics simulation for wild type (WT), H43R an... | DisGeNET | Detail |
| Pro-oxidant copper-binding mode of the Apo form of ALS-linked SOD1 mutant H43R denatured at physiolo... | 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
- rs121912435 dbSNP
- Genome
- hg38
- Position
- chr21:31,663,848-31,663,848
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser