chr12:40299125:A>G Detail (hg38) (LRRK2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:40,692,927-40,692,927 View the variant detail on this assembly version. |
| hg38 | chr12:40,299,125-40,299,125 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_198578.3:c.3364A>G | NP_940980.3:p.Ile1122Val |
| Ensemble | ENST00000298910.12:c.3364A>G | ENST00000298910.12:p.Ile1122Val |
| ENST00000343742.6:c.3364A>G | ENST00000343742.6:p.Ile1122Val |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2004-11-18 | no assertion criteria provided | Autosomal dominant Parkinson disease 8 |
unknown
germline
|
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) | Lrrk2 pathogenic substitutions in Parkinson's disease. | UNIPROT | 16172858 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_198578.4(LRRK2):c.3364A>G (p.Ile1122Val) AND Autosomal dominant Parkinson disease 8 | ClinVar | Detail |
| NA | DisGeNET | Detail |
| Lrrk2 pathogenic substitutions in Parkinson's disease. | 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
- rs34805604 dbSNP
- Genome
- hg38
- Position
- chr12:40,299,125-40,299,125
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser