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Results for "LRP12"

Variant Events: 64

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
LRP12     5-0109-003chr8:
105987815-105987825
TTCTCTCTCTCTTCTCTCTCTCTCintergenicDe novo--Yuen2017 G
LRP12     1-0520-003chr8:
105508501-105508501
CAintronicDe novo--Yuen2016 G
Yuen2017 G
LRP12     AU2756306chr8:
105559719-105559725
CTGTTATCTintronicDe novo--Yuen2017 G
LRP12     74-0265chr8:
106182903-106182903
AGintergenicDe novo--Michaelson2012 G
LRP12     2-1355-004chr8:
105766197-105766197
CTintergenicDe novo--Yuen2017 G
LRP12     12795.p1chr8:
106046061-106046061
TCintergenicDe novo--Turner2016 G
LRP12     1-0339-004chr8:
105791326-105791326
TCintergenicDe novo--Yuen2017 G
LRP12     1-0274-003chr8:
105824387-105824387
GAintergenicDe novo--Yuen2017 G
LRP12     1-0564-003chr8:
105676074-105676074
GCintergenicDe novo--Yuen2017 G
LRP12     AU4150301chr8:
105648805-105648805
CTintergenicDe novo--Yuen2017 G
LRP12     AU2950301chr8:
105951470-105951477
ATTTTTTTATTTTTTTTintergenicDe novo--Yuen2017 G
LRP12     7-0192-003chr8:
105672924-105672924
GAintergenicDe novo--Yuen2017 G
LRP12     AU3053301chr8:
106199540-106199540
ATintergenicDe novo--Yuen2017 G
LRP12     2-1348-003chr8:
105754581-105754581
GAintergenicDe novo--Yuen2017 G
LRP12     AU3702306chr8:
105710164-105710164
TCintergenicDe novo--Yuen2017 G
LRP12     1-0539-003chr8:
106019089-106019089
GAintergenicDe novo--Yuen2017 G
LRP12     AU3918302chr8:
106210236-106210236
TGintergenicDe novo--Yuen2017 G
LRP12     AU4483301chr8:
106030308-106030308
TCintergenicDe novo--Yuen2017 G
LRP12     2-1291-003chr8:
105651143-105651143
GTintergenicDe novo--Yuen2017 G
LRP12     2-1373-003 Complex Event; expand row to view variants  De novo--Yuen2016 G
Yuen2017 G
LRP12     5-0025-003chr8:
105770674-105770674
CCAGCTGATCTAintergenicDe novo--Yuen2017 G
LRP12     AU060004chr8:
106303309-106303309
GTintergenicDe novo--Yuen2017 G
LRP12     1-0524-003chr8:
106294397-106294397
CAintergenicDe novo--Yuen2016 G
Yuen2017 G
LRP12     2-0127-004chr8:
106259512-106259512
GAintergenicDe novo--Yuen2017 G
LRP12     AU3646301chr8:
106183820-106183820
AGintergenicDe novo--Yuen2017 G
LRP12     1-0150-003chr8:
105671126-105671126
CGintergenicDe novo--Yuen2017 G
LRP12     2-1402-003chr8:
106212625-106212625
GAintergenicDe novo--Yuen2017 G
LRP12     AU3302302chr8:
105629054-105629054
GCintergenicDe novo--Yuen2017 G
LRP12     1-0372-003chr8:
105544121-105544121
AGintronicDe novo--Yuen2016 G
Yuen2017 G
LRP12     AU3302302chr8:
106118609-106118609
GAintergenicDe novo--Yuen2017 G
LRP12     1-0443-003chr8:
106161443-106161443
AGintergenicDe novo--Yuen2016 G
LRP12     NDAR_INVJM256MXY_wes1chr8:
105510339-105510339
AGintronicDe novo-0.0056Kosmicki2017 E
Satterstrom2020 E
LRP12     iHART1205chr8:
105503631-105503631
GCexonicPaternalstopgainNM_001135703
NM_013437
c.C1793G
c.C1850G
p.S598X
p.S617X
39.0-Ruzzo2019 G
LRP12     1-0372-003chr8:
105790476-105790476
GCintergenicDe novo--Yuen2016 G
Yuen2017 G
LRP12     1-0299-004chr8:
105554276-105554276
AGintronicDe novo--Yuen2017 G
LRP12     2-1440-003chr8:
105841329-105841329
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
LRP12     2-1085-004chr8:
106264372-106264372
TCintergenicDe novo--Yuen2017 G
LRP12     AU4089301chr8:
105726154-105726154
TGintergenicDe novo--Yuen2017 G
LRP12     AU4089301chr8:
105726969-105726969
GAintergenicDe novo--Yuen2017 G
LRP12     AU4093304chr8:
106048420-106048425
CCCATCCCintergenicDe novo--Yuen2017 G
LRP12     2-1501-003chr8:
106271600-106271600
ACintergenicDe novo--Yuen2017 G
LRP12     AU005213chr8:
105635220-105635222
CAACAintergenicDe novo--Yuen2017 G
LRP12     10C109030chr8:
105544121-105544121
AGintronicDe novo--Satterstrom2020 E
LRP12     2-0149-004chr8:
105900467-105900467
AATintergenicDe novo--Yuen2017 G
LRP12     AU3124302chr8:
106295323-106295323
GAintergenicDe novo--Yuen2017 G
LRP12     AU3839303chr8:
105940195-105940195
TCintergenicDe novo--Yuen2017 G
LRP12     2-1508-004chr8:
105842063-105842063
GAintergenicDe novo--Yuen2017 G
LRP12     AU3190305chr8:
106185649-106185657
ACATCATCAACATCAintergenicDe novo--Yuen2017 G
LRP12     AU2089302chr8:
105629852-105629852
CGintergenicDe novo--Yuen2017 G
LRP12     AU4013303chr8:
105824190-105824190
AGintergenicDe novo--Yuen2017 G
LRP12     1-0393-003chr8:
105688091-105688091
CGintergenicDe novo--Yuen2017 G
LRP12     1-0560-003chr8:
105814567-105814567
TCintergenicDe novo--Yuen2017 G
LRP12     AU1725306chr8:
105880759-105880759
TCintergenicDe novo--Yuen2017 G
LRP12     2-1579-003chr8:
105995658-105995658
GTintergenicDe novo--Yuen2017 G
LRP12     AU3891303chr8:
105835268-105835268
ACintergenicDe novo--Yuen2017 G
LRP12     14151.p1chr8:
106172829-106172829
TTTGintergenicDe novo--Werling2018 G
LRP12     5-0077-003chr8:
105970852-105970852
TTTTTTTAintergenicDe novo--Yuen2017 G
LRP12     1-0274-004chr8:
105824387-105824387
GAintergenicDe novo--Yuen2017 G
LRP12     1-0459-004chr8:
105775704-105775704
GAintergenicDe novo--Yuen2017 G
LRP12     2-1085-003chr8:
106264372-106264372
TCintergenicDe novo--Yuen2017 G
LRP12     7-0250-003chr8:
106210476-106210476
TGintergenicDe novo--Yuen2017 G
LRP12     2-1291-003chr8:
105978706-105978706
TGintergenicDe novo--Yuen2016 G
Yuen2017 G
LRP12     5-0137-003chr8:
105891528-105891528
CTintergenicDe novo--Yuen2017 G
LRP12     AU4250301chr8:
105683376-105683376
TCintergenicDe novo--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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