chr12:40340380:T>C Detail (hg38) (LRRK2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:40,734,182-40,734,182 View the variant detail on this assembly version. |
| hg38 | chr12:40,340,380-40,340,380 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_198578.3:c.6035T>C | NP_940980.3:p.Ile2012Thr |
| Ensemble | ENST00000298910.12:c.6035T>C | ENST00000298910.12:p.Ile2012Thr |
| ENST00000680790.1:c.5780T>C | ENST00000680790.1:p.Ile1927Thr |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance |
not provided
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
other |
germline
|
MGS000082
(TMGS000165) |
Kenjiro Kosaki Kenjiro Kosaki |
Keio University Mutation View |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
not provided
|
no assertion provided | Autosomal dominant Parkinson disease 8 |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.440 | PARKINSON DISEASE 8 (disorder) | Lrrk2 pathogenic substitutions in Parkinson's disease. | UNIPROT | 16172858 | Detail |
| 0.009 | essential tremor | The LRRK2 I2012T, G2019S and I2020T mutations are not common in patients with es... | BeFree | 16939701 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_198578.4(LRRK2):c.6035T>C (p.Ile2012Thr) AND Autosomal dominant Parkinson disease 8 | ClinVar | Detail |
| Lrrk2 pathogenic substitutions in Parkinson's disease. | DisGeNET | Detail |
| The LRRK2 I2012T, G2019S and I2020T mutations are not common in patients with essential tremor. | 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
- rs34015634 dbSNP
- Genome
- hg38
- Position
- chr12:40,340,380-40,340,380
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- East Asian Chromosome Counts (ExAC)
- 8654
- East Asian Allele Counts (ExAC)
- 5
- East Asian Heterozygous Counts (ExAC)
- 5
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 5.777675063554426E-4
- Chromosome Counts in All Race (ExAC)
- 121356
- Allele Counts in All Race (ExAC)
- 5
- Heterozygous Counts in All Race (ExAC)
- 5
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 4.120109430106464E-5
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