chr21:31668547:T>C Detail (hg38) (SOD1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr21:33,040,860-33,040,860 View the variant detail on this assembly version. |
| hg38 | chr21:31,668,547-31,668,547 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000454.4:c.434T>C | NP_000445.1:p.Leu145Ser |
| Ensemble | ENST00000270142.11:c.434T>C | ENST00000270142.11:p.Leu145Ser |
| ENST00000389995.4:c.377T>C | ENST00000389995.4:p.Leu126Ser |
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
|
2022-10-21 | criteria provided, multiple submitters, no conflicts | amyotrophic lateral sclerosis type 1 |
germline
unknown
|
Detail |
|
Pathogenic
|
2016-05-03 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Pathogenic
|
2021-07-10 | criteria provided, single submitter |
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.434T>C (p.Leu145Ser) AND Amyotrophic lateral sclerosis type 1 | ClinVar | Detail |
| NM_000454.5(SOD1):c.434T>C (p.Leu145Ser) AND not provided | ClinVar | Detail |
| NM_000454.5(SOD1):c.434T>C (p.Leu145Ser) AND Abnormal central motor function | 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
- rs121912446 dbSNP
- Genome
- hg38
- Position
- chr21:31,668,547-31,668,547
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
Genome browser