Variant Results

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Results for "GATAD2B"

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

GATAD2B

2-1299-003

chr1:
153860533-153860533

A

T

intronic

De novo

-

-

Yuen2017 G

GATAD2B

2-1438-003

chr1:
153843004-153843004

G

A

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

GATAD2B

SF0106988.p1

chr1:
153862157-153862157

T

G

intronic

-

-

Wang2020 T

GATAD2B

SF0077254.p1

chr1:
153862157-153862157

T

G

intronic

-

-

Wang2020 T

GATAD2B

2-1116-003

chr1:
153872426-153872426

T

C

intronic

De novo

-

-

Yuen2017 G

GATAD2B

1000211003278724-C

chr1:
153784312-153784312

G

A

exonic

De novo

stopgain

NM_020699

c.C1543T

p.Q515X

39.0

-

Fu2022 E

GATAD2B

69

chr1:
153785737-153785737

G

A

exonic

De novo

stopgain

NM_020699

c.C1408T

p.Q470X

39.0

-

O’Roak2014 T

GATAD2B

SP0061093

chr1:
153790056-153790056

T

G

intronic

De novo

-

-

Fu2022 E

GATAD2B

AGRE_05C51810

chr1:
153785766-153785766

C

T

exonic

Unknown

nonsynonymous SNV

NM_020699

c.G1379A

p.R460Q

35.0

-

Wang2020 T

GATAD2B

2-0298-003

chr1:
153893589-153893589

G

T

intronic

De novo

-

-

Yuen2017 G

GATAD2B

Leuven2_61056333

chr1:
153784297-153784297

G

A

exonic

Unknown

nonsynonymous SNV

NM_020699

c.C1558T

p.R520C

35.0

Wang2020 T

GATAD2B

1-0507-003

chr1:
153826759-153826759

G

T

intronic

De novo

-

-

Yuen2017 G

GATAD2B

SanDiego_Y6G2U

chr1:
153784297-153784297

G

A

exonic

Unknown

nonsynonymous SNV

NM_020699

c.C1558T

p.R520C

35.0

Wang2020 T

GATAD2B

Leuven_256960

chr1:
153782742-153782743

CT

C

exonic

Unknown

frameshift deletion

NM_020699

c.1692delA

p.K564fs

-

-

Wang2020 T

GATAD2B

AU065304

chr1:
153844548-153844548

C

T

intronic

De novo

-

-

Yuen2017 G

GATAD2B

AGRE_05C51811

chr1:
153785766-153785766

C

T

exonic

Unknown

nonsynonymous SNV

NM_020699

c.G1379A

p.R460Q

35.0

-

Wang2020 T

GATAD2B

AU4343302

chr1:
153894723-153894723

G

T

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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