Variant Results

or

or

Results for "LDLRAD4"

Variant Events: 27

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

LDLRAD4

1-0591-003

chr18:
13468149-13468149

C

T

intronic

De novo

-

-

Yuen2017 G

LDLRAD4

2-0122-004

chr18:
13467318-13467318

A

C

intronic

Maternal

-

-

Yuen2017 G

LDLRAD4

12793.p1

chr18:
13435695-13435695

C

A

intronic

De novo

-

-

Turner2016 G

LDLRAD4

12529.p1

chr18:
13495892-13495892

G

T

intronic

De novo

-

-

Turner2016 G

LDLRAD4

A6

chr18:
13601922-13601922

C

T

intronic

De novo

-

-

Wu2018 G

LDLRAD4

1-0148-005

chr18:
13276927-13276927

G

A

intronic

De novo

-

-

Yuen2017 G

LDLRAD4

1-0126-004

chr18:
13391733-13391733

C

T

intronic

De novo

-

-

Yuen2017 G

LDLRAD4

1-0467-005

chr18:
13295149-13295149

A

T

intronic

De novo

-

-

Yuen2017 G

LDLRAD4

1-0126-004

chr18:
13250508-13250508

A

G

intronic

De novo

-

-

Yuen2017 G

LDLRAD4

08C72016

chr18:
13645261-13645261

G

A

exonic

De novo

nonsynonymous SNV

NM_001003675
NM_001276251
NM_001003674
NM_001276249
NM_181481
NM_181482

c.G361A
c.G232A
c.G415A
c.G295A
c.G526A
c.G472A

p.D121N
p.D78N
p.D139N
p.D99N
p.D176N
p.D158N

27.0

-

Satterstrom2020 E

LDLRAD4

AU4029302

chr18:
13587428-13587428

C

T

intronic

De novo

-

-

Yuen2017 G

LDLRAD4

2-1265-003

chr18:
13520207-13520207

G

A

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

LDLRAD4

AU3727302

chr18:
13515457-13515457

A

C

intronic

De novo

-

-

Yuen2017 G

LDLRAD4

AU3790302

chr18:
13273290-13273290

C

T

intronic

De novo

-

-

Yuen2017 G

LDLRAD4

AU057404

chr18:
13592932-13592932

G

A

intronic

De novo

-

-

Yuen2017 G

LDLRAD4

AU2140306

chr18:
13661544-13661544

T

C

intergenic

De novo

-

-

Yuen2017 G

LDLRAD4

2-0045-003

chr18:
13646697-13646697

A

T

UTR3

De novo

-

-

Yuen2016 G
Yuen2017 G

LDLRAD4

AU079204

chr18:
13277164-13277164

A

G

intronic

De novo

-

-

Yuen2017 G

LDLRAD4

AU1987301

chr18:
13392727-13392727

T

A

intronic

De novo

-

-

Yuen2017 G

LDLRAD4

1-0218-004

chr18:
13370910-13370910

A

G

intronic

De novo

-

-

Yuen2017 G

LDLRAD4

1-0898-003

chr18:
13278261-13278261

C

T

intronic

De novo

-

-

Yuen2017 G

LDLRAD4

2-0033-003

chr18:
13573323-13573323

C

T

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

LDLRAD4

2-1350-004

chr18:
13446767-13446767

C

T

intronic

De novo

-

-

Yuen2017 G

LDLRAD4

2-1508-004

chr18:
13551680-13551682

CAG

C

intronic

De novo

-

-

Yuen2017 G

LDLRAD4

2-0171-003

chr18:
13314924-13314924

C

T

intronic

De novo

-

-

Yuen2017 G

LDLRAD4

AU3874303

chr18:
13388766-13388766

C

T

intronic

De novo

-

-

Yuen2017 G

LDLRAD4

2-0122-003

chr18:
13467318-13467318

A

C

intronic

Maternal

-

-

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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