chr21:33039672:T>C Detail (hg19) (SOD1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr21:33,039,672-33,039,672 |
| hg38 | chr21:31,667,359-31,667,359 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000454.4:c.341T>C | NP_000445.1:p.Ile114Thr |
| Ensemble | ENST00000270142.11:c.341T>C | ENST00000270142.11:p.Ile114Thr |
| ENST00000389995.4:c.284T>C | ENST00000389995.4:p.Ile95Thr |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
amyotrophic lateral sclerosis |
unknown
|
MGS000001
(TMGS000162) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
Likely pathogenic
|
2024-01-21 | criteria provided, multiple submitters, no conflicts | amyotrophic lateral sclerosis type 1 |
germline
|
Detail |
|
Pathogenic
|
2021-06-24 | criteria provided, multiple submitters, no conflicts | not provided |
germline
unknown
|
Detail |
|
Pathogenic
|
2016-08-31 | criteria provided, single submitter | motor neuron disease |
unknown
|
Detail |
|
Pathogenic
|
2024-02-16 | 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 | |
| 0.438 | amyotrophic lateral sclerosis | A patient is described with a 20 year duration of motor neuron disease, with cli... | BeFree | 7673954 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000454.5(SOD1):c.341T>C (p.Ile114Thr) AND Amyotrophic lateral sclerosis type 1 | ClinVar | Detail |
| NM_000454.5(SOD1):c.341T>C (p.Ile114Thr) AND not provided | ClinVar | Detail |
| NM_000454.5(SOD1):c.341T>C (p.Ile114Thr) AND Motor neuron disease | ClinVar | Detail |
| NM_000454.5(SOD1):c.341T>C (p.Ile114Thr) AND SOD1-related disorder | ClinVar | Detail |
| NA | DisGeNET | Detail |
| A patient is described with a 20 year duration of motor neuron disease, with clinical features of AL... | 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
- rs121912441 dbSNP
- Genome
- hg19
- Position
- chr21:33,039,672-33,039,672
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
Genome browser