chr19:42474694:C>G Detail (hg19) (ATP1A3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:42,474,694-42,474,694 |
| hg38 | chr19:41,970,542-41,970,542 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001256213.1:c.2297G>C | NP_001243142.1:p.Gly766Ala |
| NM_001256214.1:c.2303G>C | NP_001243143.1:p.Gly768Ala | |
| Ensemble | ENST00000543770.5:c.2297G>C | ENST00000543770.5:p.Gly766Ala |
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
|
other |
germline
|
MGS000001
(TMGS000137) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2021-08-31 | criteria provided, single submitter | dystonia 12 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.240 | Alternating hemiplegia of childhood 2 | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_152296.5(ATP1A3):c.2264G>C (p.Gly755Ala) AND Dystonia 12 | 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
- rs606231434 dbSNP
- Genome
- hg19
- Position
- chr19:42,474,694-42,474,694
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
Genome browser