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Results for "PRICKLE1"

Variant Events: 9

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
PRICKLE1     Cukier2014:37232chr12:
42864125-42864125
CGexonicUnknownnonsynonymous SNVNM_001144881
NM_001144882
NM_001144883
NM_153026
c.G169C
c.G169C
c.G169C
c.G169C
p.V57L
p.V57L
p.V57L
p.V57L
21.4-Cukier2014 E
PRICKLE1     AU1223303chr12:
42989428-42989428
GAintergenicDe novo--Yuen2017 G
PRICKLE1     AU060703chr12:
42886800-42886800
CTintronicDe novo--Yuen2017 G
PRICKLE1     7-0002-003chr12:
42920231-42920236
GAGGACGintronicDe novo--Yuen2017 G
PRICKLE1     1-0445-003chr12:
42919040-42919040
CGintronicDe novo--Yuen2017 G
PRICKLE1     MT_28chr12:
42853740-42853740
CGexonicPaternalnonsynonymous SNVNM_001144881
NM_001144882
NM_001144883
NM_153026
c.G2367C
c.G2367C
c.G2367C
c.G2367C
p.Q789H
p.Q789H
p.Q789H
p.Q789H
12.3-Toma2013 E
PRICKLE1     Cukier2014:37232chr12:
42862463-42862463
CTexonicUnknownnonsynonymous SNVNM_001144881
NM_001144882
NM_001144883
NM_153026
c.G553A
c.G553A
c.G553A
c.G553A
p.E185K
p.E185K
p.E185K
p.E185K
36.0-Cukier2014 E
PRICKLE1     AU4070301chr12:
42945847-42945847
AGintronicDe novo--Yuen2017 G
PRICKLE1     2-0286-003chr12:
42851875-42851875
CTdownstreamDe 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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