Variant Results

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Results for "RAD54L2"

Variant Events: 17

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

RAD54L2

2-0145-004

chr3:
51629961-51629961

T

TTGTTTTTTGGGTTTG

intronic

De novo

-

-

Yuen2017 G

RAD54L2

2-1561-003

chr3:
51682569-51682569

G

A

intronic

De novo

-

-

Yuen2017 G

RAD54L2

2-0022-005

chr3:
51609156-51609156

C

T

intronic

De novo

-

-

Yuen2017 G

RAD54L2

1-0455-003

chr3:
51630214-51630214

A

G

intronic

De novo

-

-

Yuen2017 G

RAD54L2

5-0040-003

chr3:
51630204-51630204

A

AGGTTC

intronic

De novo

-

-

Yuen2017 G

RAD54L2

2-0149-005

chr3:
51613298-51613298

G

A

intronic

De novo

-

-

Yuen2017 G

RAD54L2

Li2017:20603

chr3:
51667925-51667925

C

T

exonic

Unknown

nonsynonymous SNV

NM_015106

c.C1016T

p.T339I

25.9

-

Li2017 T

RAD54L2

Codina-Sola2015:ASD_34

chr3:
51661610-51661610

T

A

exonic

Paternal

nonsynonymous SNV

NM_015106

c.T181A

p.L61M

13.63

-

Codina-Sola2015 E

RAD54L2

1-0161-003

chr3:
51629961-51629961

T

TGGGTTTG

intronic

De novo

-

-

Yuen2017 G

RAD54L2

5-0084-003

chr3:
51629961-51629961

T

TGGGTTTG

intronic

De novo

-

-

Yuen2017 G

RAD54L2

1-0494-003

chr3:
51629961-51629961

T

TTTTTTGTTTTTTGGGTTTG

intronic

De novo

-

-

Yuen2017 G

RAD54L2

Li2017:18334

chr3:
51661637-51661637

C

T

exonic

Unknown

nonsynonymous SNV

NM_015106

c.C208T

p.R70W

26.9

Li2017 T

RAD54L2

2-0182-003

chr3:
51629962-51629962

T

TATTTTA

intronic

De novo

-

-

Yuen2017 G

RAD54L2

2-0307-004

chr3:
51629961-51629961

T

TGGGTTTG

intronic

De novo

-

-

Yuen2017 G

RAD54L2

DEASD_0020_001

chr3:
51696843-51696843

C

T

exonic

De novo

nonsynonymous SNV

NM_015106

c.C3811T

p.R1271W

14.73

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

RAD54L2

1-0269-005

chr3:
51629955-51629955

T

TG

intronic

De novo

-

-

Yuen2017 G

RAD54L2

AU3888302

chr3:
51609772-51609772

A

G

intronic

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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