chr21:31667290:A>T Detail (hg38) (SOD1, SCAF4)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr21:33,039,603-33,039,603 View the variant detail on this assembly version. |
| hg38 | chr21:31,667,290-31,667,290 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000454.4:c.272A>T | NP_000445.1:p.Asp91Val |
| Ensemble | ENST00000270142.11:c.272A>T | ENST00000270142.11:p.Asp91Val |
| ENST00000389995.4:c.215A>T | ENST00000389995.4:p.Asp72Val |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 1 |
| 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
|
2022-12-07 | criteria provided, single submitter | amyotrophic lateral sclerosis type 1 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000454.5(SOD1):c.272A>T (p.Asp91Val) AND Amyotrophic lateral sclerosis type 1 | ClinVar | 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
- -
- Genome
- hg38
- Position
- chr21:31,667,290-31,667,290
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- T
Genome browser