chr21:33040830:G>A Detail (hg19) (SOD1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr21:33,040,830-33,040,830 |
| hg38 | chr21:31,668,517-31,668,517 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000454.4:c.404G>A | NP_000445.1:p.Ser135Asn |
| Ensemble | ENST00000270142.11:c.404G>A | ENST00000270142.11:p.Ser135Asn |
| ENST00000389995.4:c.347G>A | ENST00000389995.4:p.Ser116Asn |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:<0.001 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance |
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 |
germline
|
MGS000082
(TMGS000165) |
Kenjiro Kosaki Kenjiro Kosaki |
Keio University Mutation View |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
1997-01-01 | 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 | |
| 0.438 | amyotrophic lateral sclerosis | Analysis of the 35 patients with sporadic ALS revealed a previously known SOD1 m... | BeFree | 18852346 | Detail |
| 0.520 | AMYOTROPHIC LATERAL SCLEROSIS 1 | S134N copper-zinc superoxide dismutase (SOD1) is one of the many mutant SOD1 pro... | BeFree | 16105836 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000454.5(SOD1):c.404G>A (p.Ser135Asn) AND Amyotrophic lateral sclerosis type 1 | ClinVar | Detail |
| NA | DisGeNET | Detail |
| Analysis of the 35 patients with sporadic ALS revealed a previously known SOD1 mutation, S134N, a no... | DisGeNET | Detail |
| S134N copper-zinc superoxide dismutase (SOD1) is one of the many mutant SOD1 proteins known to cause... | 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
- rs121912451 dbSNP
- Genome
- hg19
- Position
- chr21:33,040,830-33,040,830
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs121912451
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0001
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 2
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8652
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 121354
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.240354664864776E-6
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