Variant Results

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Results for "PRICKLE1"

Variant Events: 11

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

AU1223303

chr12:
42989428-42989428

G

A

intergenic

De novo

-

-

Yuen2017 G

PRICKLE1

Cukier2014:37232

chr12:
42862463-42862463

C

T

exonic

Unknown

nonsynonymous SNV

NM_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

SP0054520

chr12:
42858392-42858392

C

T

exonic

De novo

nonsynonymous SNV

NM_001144881
NM_001144882
NM_001144883
NM_153026

c.G1444A
c.G1444A
c.G1444A
c.G1444A

p.D482N
p.D482N
p.D482N
p.D482N

21.7

-

Fu2022 E

PRICKLE1

Cukier2014:37232

chr12:
42864125-42864125

C

G

exonic

Unknown

nonsynonymous SNV

NM_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

SP0110819

chr12:
42864041-42864041

A

C

intronic

De novo

-

-

Fu2022 E

PRICKLE1

AU060703

chr12:
42886800-42886800

C

T

intronic

De novo

-

-

Yuen2017 G

PRICKLE1

7-0002-003

chr12:
42920231-42920236

GAGGAC

G

intronic

De novo

-

-

Yuen2017 G

PRICKLE1

1-0445-003

chr12:
42919040-42919040

C

G

intronic

De novo

-

-

Yuen2017 G

PRICKLE1

MT_28

chr12:
42853740-42853740

C

G

exonic

Paternal

nonsynonymous SNV

NM_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

AU4070301

chr12:
42945847-42945847

A

G

intronic

De novo

-

-

Yuen2017 G

PRICKLE1

2-0286-003

chr12:
42851875-42851875

C

T

downstream

De novo

-

-

Yuen2017 G

Source Variant Information

, -

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 notes	View
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