chr12:40315266:T>A Detail (hg38) (LRRK2)

Information

Genome

Assembly Position
hg19 chr12:40,709,068-40,709,068 View the variant detail on this assembly version.
hg38 chr12:40,315,266-40,315,266

HGVS

Type Transcript Protein
RefSeq NM_198578.3:c.4793T>A NP_940980.3:p.Val1598Glu
Ensemble ENST00000298910.12:c.4793T>A ENST00000298910.12:p.Val1598Glu
ENST00000680790.1:c.4538T>A ENST00000680790.1:p.Val1513Glu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance not provided
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
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
Annotation

Annotations

DescrptionSourceLinks
NM_198578.4(LRRK2):c.4793T>A (p.Val1598Glu) AND Autosomal dominant Parkinson disease 8 ClinVar 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
rs721710 dbSNP
Genome
hg38
Position
chr12:40,315,266-40,315,266
Variant Type
snv
Reference Allele
T
Alternative Allele
A
Genome browser