chr12:40340404:T>C Detail (hg38) (LRRK2)

Information

Genome

Assembly Position
hg19 chr12:40,734,206-40,734,206 View the variant detail on this assembly version.
hg38 chr12:40,340,404-40,340,404

HGVS

Type Transcript Protein
RefSeq NM_198578.3:c.6059T>C NP_940980.3:p.Ile2020Thr
Ensemble ENST00000298910.12:c.6059T>C ENST00000298910.12:p.Ile2020Thr
ENST00000680790.1:c.5804T>C ENST00000680790.1:p.Ile1935Thr
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 609007 OMIM
HGNC 18618 HGNC
Ensembl ENSG00000188906 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
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
Pathogenic 2014-05-09 no assertion criteria provided Autosomal dominant Parkinson disease 8 germline unknown Detail
Pathogenic 2020-12-01 criteria provided, single submitter not provided 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
0.009 essential tremor The LRRK2 I2012T, G2019S and I2020T mutations are not common in patients with es... BeFree 16939701 Detail
0.436 Parkinson disease The Parkinson disease causing LRRK2 mutation I2020T is associated with increased... BeFree 16321986 Detail
0.003 Parkinson disease, late-onset This suggests that the pathology of PD caused by the I2020T mutation is associat... BeFree 16321986 Detail
0.001 Central neuroblastoma Reduction of Akt1 phosphorylation and apoptosis resistance were also evident whe... BeFree 23220480 Detail
0.004 Central neuroblastoma Reduction of Akt1 phosphorylation and apoptosis resistance were also evident whe... BeFree 23220480 Detail
0.001 neuroblastoma Reduction of Akt1 phosphorylation and apoptosis resistance were also evident whe... BeFree 23220480 Detail
0.005 neuroblastoma Reduction of Akt1 phosphorylation and apoptosis resistance were also evident whe... BeFree 23220480 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_198578.4(LRRK2):c.6059T>C (p.Ile2020Thr) AND Autosomal dominant Parkinson disease 8 ClinVar Detail
NM_198578.4(LRRK2):c.6059T>C (p.Ile2020Thr) AND not provided ClinVar Detail
NA DisGeNET 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
The Parkinson disease causing LRRK2 mutation I2020T is associated with increased kinase activity. DisGeNET Detail
This suggests that the pathology of PD caused by the I2020T mutation is associated with an increase ... DisGeNET Detail
Reduction of Akt1 phosphorylation and apoptosis resistance were also evident when a neuroblastoma SH... DisGeNET Detail
Reduction of Akt1 phosphorylation and apoptosis resistance were also evident when a neuroblastoma SH... DisGeNET Detail
Reduction of Akt1 phosphorylation and apoptosis resistance were also evident when a neuroblastoma SH... DisGeNET Detail
Reduction of Akt1 phosphorylation and apoptosis resistance were also evident when a neuroblastoma SH... 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
rs35870237 dbSNP
Genome
hg38
Position
chr12:40,340,404-40,340,404
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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