chr12:40310434:C>T Detail (hg38) (LRRK2)

Information

Genome

Assembly Position
hg19 chr12:40,704,236-40,704,236 View the variant detail on this assembly version.
hg38 chr12:40,310,434-40,310,434

HGVS

Type Transcript Protein
RefSeq NM_198578.3:c.4321C>T NP_940980.3:p.Arg1441Cys
Ensemble ENST00000298910.12:c.4321C>T ENST00000298910.12:p.Arg1441Cys
ENST00000680790.1:c.4066C>T ENST00000680790.1:p.Arg1356Cys
Summary

MGeND

Clinical significance
Variant entry
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 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 tgv219899107 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-10-28 criteria provided, multiple submitters, no conflicts Autosomal dominant Parkinson disease 8 germline unknown Detail
Pathogenic 2024-02-01 criteria provided, multiple submitters, no conflicts not provided unknown germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.440 PARKINSON DISEASE 8 (disorder) NA CLINVAR Detail
0.436 Parkinson disease Identification of a Japanese family with LRRK2 p.R1441G-related Parkinson's dise... BeFree 24973808 Detail
0.159 Parkinsonian Disorders Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease. BeFree 18337586 Detail
<0.001 Parkinson Disease, Familial, Type 1 We demonstrated that wild-type (WT) LRRK2 expression caused mitochondrial fragme... BeFree 22228096 Detail
0.004 Autosomal Dominant Parkinsonism The Roc domain of the Lrrk2 protein harbors two pathogenic mutations which cause... BeFree 18952485 Detail
0.436 Parkinson disease Cognitive dysfunction in Parkinson's disease related to the R1441G mutation in L... BeFree 25127457 Detail
<0.001 Movement Disorders Thirty patients with R1441G-PD were compared with thirty idiopathic PD (i-PD) pa... BeFree 25127457 Detail
<0.001 Depressive Symptoms Depressive symptoms were detected in 31.8% of R1441G-PD and 25% of i-PD patients... BeFree 25127457 Detail
0.002 Presenile dementia In conclusion, significant differences were not detected between R1441G-PD and i... BeFree 25127457 Detail
0.007 dementia In conclusion, significant differences were not detected between R1441G-PD and i... BeFree 25127457 Detail
<0.001 Anxiety Disorders Depressive symptoms were detected in 31.8% of R1441G-PD and 25% of i-PD patients... BeFree 25127457 Detail
0.440 PARKINSON DISEASE 8 (disorder) LRRK2 mutations in Spanish patients with Parkinson disease: frequency, clinical ... UNIPROT 16533964 Detail
0.002 Impaired cognition Cognitive dysfunction in Parkinson's disease related to the R1441G mutation in L... BeFree 25127457 Detail
0.436 Parkinson disease Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease. BeFree 18337586 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_198578.4(LRRK2):c.4321C>T (p.Arg1441Cys) AND Autosomal dominant Parkinson disease 8 ClinVar Detail
NM_198578.4(LRRK2):c.4321C>T (p.Arg1441Cys) AND not provided ClinVar Detail
NA DisGeNET Detail
Identification of a Japanese family with LRRK2 p.R1441G-related Parkinson's disease. DisGeNET Detail
Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease. DisGeNET Detail
We demonstrated that wild-type (WT) LRRK2 expression caused mitochondrial fragmentation along with i... DisGeNET Detail
The Roc domain of the Lrrk2 protein harbors two pathogenic mutations which cause autosomal dominant ... DisGeNET Detail
Cognitive dysfunction in Parkinson's disease related to the R1441G mutation in LRRK2. DisGeNET Detail
Thirty patients with R1441G-PD were compared with thirty idiopathic PD (i-PD) patients who were matc... DisGeNET Detail
Depressive symptoms were detected in 31.8% of R1441G-PD and 25% of i-PD patients and anxiety symptom... DisGeNET Detail
In conclusion, significant differences were not detected between R1441G-PD and i-PD in cognitive, de... DisGeNET Detail
In conclusion, significant differences were not detected between R1441G-PD and i-PD in cognitive, de... DisGeNET Detail
Depressive symptoms were detected in 31.8% of R1441G-PD and 25% of i-PD patients and anxiety symptom... DisGeNET Detail
LRRK2 mutations in Spanish patients with Parkinson disease: frequency, clinical features, and incomp... DisGeNET Detail
Cognitive dysfunction in Parkinson's disease related to the R1441G mutation in LRRK2. DisGeNET Detail
Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson 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
rs33939927 dbSNP
Genome
hg38
Position
chr12:40,310,434-40,310,434
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8652
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121294
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.244430886935875E-6
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