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Results for "LRRK2"

Variant Events: 14

Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
LRRK2     A09018-3chr12:
40702952-40702952
CTexonicUnknownstopgainNM_198578c.C4234Tp.R1412X44.0-Li2017 T
LRRK2     AU3399302chr12:
40766507-40766507
GTintergenicDe novo--Yuen2017 G
LRRK2     A7chr12:
40702952-40702952
CTexonicDe novostopgainNM_198578c.C4234Tp.R1412X44.0-Wu2018 G
LRRK2     1-0563-003chr12:
40721453-40721453
GAintronicDe novo--Yuen2017 G
LRRK2     Li2017:23636chr12:
40702346-40702346
GAexonicUnknownnonsynonymous SNVNM_198578c.G4037Ap.G1346D28.1-Li2017 T
LRRK2     2-1213-003chr12:
40779224-40779224
GTintergenicDe novo--Yuen2017 G
LRRK2     AU070703chr12:
40715947-40715947
AGexonicDe novononsynonymous SNVNM_198578c.A5281Gp.S1761G21.5-Yuen2017 G
LRRK2     iHART2748chr12:
40753248-40753248
TCsplicingPaternalsplicing17.071.658E-5Ruzzo2019 G
LRRK2     AU2156303chr12:
40676145-40676145
GAintronicDe novo--Yuen2017 G
LRRK2     Li2017:19687chr12:
40715839-40715839
CTexonicUnknownstopgainNM_198578c.C5173Tp.R1725X45.06.637E-5Li2017 T
LRRK2     3-0436-000chr12:
40766587-40766587
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
LRRK2     2-0102-004chr12:
40668397-40668397
CTexonicDe novononsynonymous SNVNM_198578c.C1669Tp.P557S23.1-Yuen2015 G
LRRK2     Li2017:19764chr12:
40704416-40704416
CTexonicUnknownnonsynonymous SNVNM_198578c.C4501Tp.R1501W25.38.276E-6Li2017 T
LRRK2     AU038204chr12:
40687350-40687350
GTexonicDe novononsynonymous SNVNM_198578c.G2693Tp.S898I15.31-Yuen2017 G
Source Variant Information

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Source:

Paper alias:

No records found.
Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notesView
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