chr12:40704237:G>A Detail (hg19) (LRRK2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:40,704,237-40,704,237 |
| hg38 | chr12:40,310,435-40,310,435 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_198578.3:c.4322G>A | NP_940980.3:p.Arg1441His |
| Ensemble | ENST00000680790.1:c.4067G>A | ENST00000680790.1:p.Arg1356His |
| ENST00000298910.12:c.4322G>A | ENST00000298910.12:p.Arg1441His |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
criteria provided, single submitter | Autosomal dominant Parkinson disease 8 |
germline
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.440 | PARKINSON DISEASE 8 (disorder) | NA | CLINVAR | Detail | |
| 0.440 | PARKINSON DISEASE 8 (disorder) | A clinic-based study of the LRRK2 gene in Parkinson disease yields new mutations... | UNIPROT | 16157909 | Detail |
| 0.436 | Parkinson disease | Parkinson disease-associated mutation R1441H in LRRK2 prolongs the active state ... | BeFree | 24591621 | Detail |
| 0.159 | Parkinsonian Disorders | Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism. | BeFree | 18952485 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_198578.4(LRRK2):c.4322G>A (p.Arg1441His) AND Autosomal dominant Parkinson disease 8 | ClinVar | Detail |
| NA | DisGeNET | Detail |
| A clinic-based study of the LRRK2 gene in Parkinson disease yields new mutations. | DisGeNET | Detail |
| Parkinson disease-associated mutation R1441H in LRRK2 prolongs the active state of its GTPase domain... | DisGeNET | Detail |
| Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism. | 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
- rs34995376 dbSNP
- Genome
- hg19
- Position
- chr12:40,704,237-40,704,237
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser