chr12:40714916:A>G Detail (hg19) (LRRK2)

Information

Genome

Assembly Position
hg19 chr12:40,714,916-40,714,916
hg38 chr12:40,321,114-40,321,114 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_198578.3:c.5096A>G NP_940980.3:p.Tyr1699Cys
Ensemble ENST00000680790.1:c.4841A>G ENST00000680790.1:p.Tyr1614Cys
ENST00000298910.12:c.5096A>G ENST00000298910.12:p.Tyr1699Cys
Summary

MGeND

Clinical significance
Variant entry
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
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2005-08-01 no assertion criteria provided 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) Lrrk2 pathogenic substitutions in Parkinson's disease. UNIPROT 16172858 Detail
0.007 dementia Pathogenic Lrrk2 Y1699C substitution observed in a large German-Canadian kindred... BeFree 16865326 Detail
0.159 Parkinsonian Disorders Sustained response to deep brain stimulation in LRRK2 parkinsonism with the Y169... BeFree 23938256 Detail
0.002 Presenile dementia Pathogenic Lrrk2 Y1699C substitution observed in a large German-Canadian kindred... BeFree 16865326 Detail
0.018 Neurodegenerative Disorders Pathogenic Lrrk2 Y1699C substitution observed in a large German-Canadian kindred... BeFree 16865326 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_198578.4(LRRK2):c.5096A>G (p.Tyr1699Cys) AND Autosomal dominant Parkinson disease 8 ClinVar Detail
NA DisGeNET Detail
Lrrk2 pathogenic substitutions in Parkinson's disease. DisGeNET Detail
Pathogenic Lrrk2 Y1699C substitution observed in a large German-Canadian kindred presents a neurodeg... DisGeNET Detail
Sustained response to deep brain stimulation in LRRK2 parkinsonism with the Y1699C mutation. DisGeNET Detail
Pathogenic Lrrk2 Y1699C substitution observed in a large German-Canadian kindred presents a neurodeg... DisGeNET Detail
Pathogenic Lrrk2 Y1699C substitution observed in a large German-Canadian kindred presents a neurodeg... 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
rs35801418 dbSNP
Genome
hg19
Position
chr12:40,714,916-40,714,916
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser