chr12:40298488:A>G Detail (hg38) (LRRK2)

Information

Genome

Assembly Position
hg19 chr12:40,692,290-40,692,290 View the variant detail on this assembly version.
hg38 chr12:40,298,488-40,298,488

HGVS

Type Transcript Protein
RefSeq NM_198578.3:c.3342A>G NP_940980.3:p.Leu1114=
Ensemble ENST00000298910.12:c.3342A>G ENST00000298910.12:p.Leu1114=
ENST00000343742.6:c.3342A>G ENST00000343742.6:p.Leu1114=
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 Benign Likely benign
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
Likely benign 2023-04-22 criteria provided, single submitter Autosomal dominant Parkinson disease 8 germline unknown Detail
Likely benign 2023-10-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Benign 2021-05-12 criteria provided, single submitter not specified unknown Detail
Likely benign 2022-02-18 criteria provided, single submitter Inborn genetic diseases germline Detail
Likely benign 2021-03-22 criteria provided, single submitter LRRK2-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.440 PARKINSON DISEASE 8 (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_198578.4(LRRK2):c.3342A>G (p.Leu1114=) AND Autosomal dominant Parkinson disease 8 ClinVar Detail
NM_198578.4(LRRK2):c.3342A>G (p.Leu1114=) AND not provided ClinVar Detail
NM_198578.4(LRRK2):c.3342A>G (p.Leu1114=) AND not specified ClinVar Detail
NM_198578.4(LRRK2):c.3342A>G (p.Leu1114=) AND Inborn genetic diseases ClinVar Detail
NM_198578.4(LRRK2):c.3342A>G (p.Leu1114=) AND LRRK2-related disorder ClinVar Detail
NA 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
rs35808389 dbSNP
Genome
hg38
Position
chr12:40,298,488-40,298,488
Variant Type
snv
Reference Allele
A
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8644
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)
121220
Allele Counts in All Race (ExAC)
36
Heterozygous Counts in All Race (ExAC)
36
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.9698069625474344E-4
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