Variant Results

or

Results for "ERBB4"

Variant Events: 80

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

ERBB4

2-1180-003

chr2:
212335361-212335361

T

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

ERBB4

1-0443-003

chr2:
212320643-212320643

G

GC

intronic

De novo

-

Yuen2016 G

ERBB4

1-0567-003

chr2:
212332141-212332141

C

G

intronic

De novo

-

Yuen2017 G

ERBB4

1-0323-004

chr2:
212720023-212720023

G

A

intronic

De novo

-

Yuen2017 G

ERBB4

2-1362-004

chr2:
213220047-213220047

A

G

intronic

De novo

-

Yuen2017 G

ERBB4

2-1366-003

chr2:
212876307-212876307

C

T

intronic

De novo

-

Yuen2017 G

ERBB4

AU025704

chr2:
212807719-212807719

A

C

intronic

De novo

-

Yuen2017 G

ERBB4

2-1456-004

chr2:
212526045-212526048

GAAC

G

intronic

De novo

-

Yuen2017 G

ERBB4

1-0382-004

chr2:
212283047-212283047

G

A

intronic

De novo

-

Yuen2017 G

ERBB4

GM184001

chr2:
212488745-212488745

C

G

exonic

De novo

nonsynonymous SNV

NM_001042599
NM_005235

c.G2104C
c.G2104C

p.G702R
p.G702R

32.0

-

Fu2022 E

ERBB4

SP0148708

chr2:
212812248-212812248

G

C

exonic

De novo

nonsynonymous SNV

NM_001042599
NM_005235

c.C328G
c.C328G

p.L110V
p.L110V

25.0

-

Fu2022 E

ERBB4

AU4359301

chr2:
213003902-213003902

C

T

intronic

De novo

-

Yuen2017 G

ERBB4

1-0638-003

chr2:
212550763-212550763

G

A

intronic

De novo

-

Yuen2017 G

ERBB4

2-1594-003

chr2:
212748324-212748324

T

A

intronic

De novo

-

Yuen2017 G

ERBB4

1-0745-003

chr2:
212524504-212524504

T

A

intronic

De novo

-

Yuen2017 G

ERBB4

2-1509-003

chr2:
213249955-213249964

ATATATTATA

ATATA

intronic

De novo

-

Yuen2017 G

ERBB4

AU3636301

chr2:
213362391-213362391

C

A

intronic

De novo

-

Yuen2017 G

ERBB4

2-0256-004

chr2:
213061744-213061744

G

A

intronic

De novo

-

Yuen2017 G

ERBB4

5-0117-003

chr2:
212354562-212354562

A

T

intronic

De novo

-

Yuen2017 G

ERBB4

7-0067-003

chr2:
212900122-212900122

T

C

intronic

De novo

-

Yuen2017 G

ERBB4

36742

chr2:
212522487-212522487

T

C

exonic

De novo

synonymous SNV

NM_001042599
NM_005235

c.A1938G
c.A1938G

p.Q646Q
p.Q646Q

-

Fu2022 E

ERBB4

2-0285-003

chr2:
212736845-212736845

C

T

intronic

De novo

-

Yuen2017 G

ERBB4

Lim2017:36742

chr2:
212522487-212522487

T

C

exonic

De novo

synonymous SNV

NM_001042599
NM_005235

c.A1938G
c.A1938G

p.Q646Q
p.Q646Q

-

Lim2017 E

ERBB4

2-0318-004

chr2:
212418491-212418491

T

C

intronic

De novo

-

Yuen2017 G

ERBB4

1-0460-003

chr2:
213358490-213358490

G

A

intronic

De novo

-

Yuen2017 G

ERBB4

AU2109302

chr2:
213091418-213091418

T

C

intronic

De novo

-

Yuen2017 G

ERBB4

11905.p1

chr2:
212578279-212578279

G

T

exonic

Mosaic

stopgain

NM_001042599
NM_005235

c.C978A
c.C978A

p.C326X
p.C326X

33.0

-

Dou2017 E

ERBB4

AU4410302

chr2:
212910432-212910432

G

C

intronic

De novo

-

Yuen2017 G

ERBB4

1-0757-003

chr2:
212854517-212854517

C

T

intronic

De novo

-

Yuen2017 G

ERBB4

5-0003-003

chr2:
212586772-212586772

G

A

intronic

De novo

-

Yuen2017 G

ERBB4

1-0065-005

chr2:
212863320-212863323

ATTT

A

intronic

De novo

-

Yuen2017 G

ERBB4

1-0524-003

chr2:
212450885-212450885

A

G

intronic

De novo

-

Yuen2017 G

ERBB4

PN400128

chr2:
212289007-212289007

C

CAGTTCCCATATAGTAACTCCTATATTGGAGAAAA

exonic

Unknown

frameshift insertion

NM_001042599
NM_005235

c.2738_2739insTTTTCTCCAATATAGGAGTTACTATATGGGAACT
c.2738_2739insTTTTCTCCAATATAGGAGTTACTATATGGGAACT

p.L913fs
p.L913fs

-

Leblond2019 E

ERBB4

1-0303-004

chr2:
213248962-213248962

G

A

intronic

De novo

-

Yuen2017 G

ERBB4

AU3786301

chr2:
213585587-213585587

A

G

intergenic

De novo

-

Yuen2017 G

ERBB4

1-0303-004

chr2:
213246163-213246163

C

A

intronic

De novo

-

Yuen2017 G

ERBB4

2-1350-004

chr2:
212606792-212606792

G

T

intronic

De novo

-

Yuen2017 G

ERBB4

2-1416-004

chr2:
212867163-212867163

C

T

intronic

De novo

-

Yuen2017 G

ERBB4

AU4015303

chr2:
212987600-212987600

C

T

intronic

De novo

-

Yuen2017 G

ERBB4

7-0188-003

chr2:
212773502-212773502

A

G

intronic

De novo

-

Yuen2017 G

ERBB4

AU0039303

chr2:
213297711-213297711

T

C

intronic

De novo

-

Yuen2017 G

ERBB4

1-0295-003

chr2:
212653615-212653615

A

G

intronic

De novo

-

Yuen2017 G

ERBB4

1-0433-003

chr2:
212609825-212609825

A

G

intronic

De novo

-

Yuen2017 G

ERBB4

1-0295-003

chr2:
213080158-213080165

CTGTGTGT

CTGT

intronic

De novo

-

Yuen2017 G

ERBB4

1-0372-003

chr2:
212253825-212253825

A

G

intronic

De novo

-

Yuen2017 G

ERBB4

PN400489

chr2:
212289007-212289007

C

CAGTTCCCATATAGTAACTCCTATATTGGAGAAAA

exonic

Unknown

frameshift insertion

NM_001042599
NM_005235

c.2738_2739insTTTTCTCCAATATAGGAGTTACTATATGGGAACT
c.2738_2739insTTTTCTCCAATATAGGAGTTACTATATGGGAACT

p.L913fs
p.L913fs

-

Leblond2019 E

ERBB4

2-1399-003

chr2:
213024898-213024898

C

T

intronic

De novo

-

Yuen2017 G

ERBB4

2-1168-003

chr2:
212376471-212376471

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

ERBB4

AU4092302

chr2:
213362522-213362522

T

C

intronic

De novo

-

Yuen2017 G

ERBB4

2-1189-003

chr2:
213526912-213526912

C

A

intergenic

De novo

-

Yuen2017 G

ERBB4

AU026412

chr2:
212645313-212645313

T

C

intronic

De novo

-

Yuen2017 G

ERBB4

1-0450-003

chr2:
212727950-212727950

G

C

intronic

De novo

-

Yuen2017 G

ERBB4

3-0434-000

chr2:
212959707-212959707

C

A

intronic

De novo

-

Yuen2017 G

ERBB4

1-0841-003

chr2:
212521371-212521371

C

T

intronic

De novo

-

Yuen2017 G

ERBB4

AU038203

chr2:
213267816-213267819

CAAA

CAA

intronic

De novo

-

Yuen2017 G

ERBB4

AU045010

chr2:
213656422-213656422

C

T

intergenic

De novo

-

Yuen2017 G

ERBB4

1-0677-003

chr2:
212569761-212569761

A

C

intronic

De novo

-

Yuen2017 G

ERBB4

5-0065-003

chr2:
213557346-213557346

A

G

intergenic

De novo

-

Yuen2017 G

ERBB4

Codina-Sola2015:ASD_19

chr2:
212495269-212495269

A

G

exonic

Paternal

nonsynonymous SNV

NM_001042599
NM_005235

c.T1997C
c.T1997C

p.I666T
p.I666T

23.2

8.243E-6

Codina-Sola2015 E

ERBB4

AU3368302

chr2:
213628035-213628035

G

T

intergenic

De novo

-

Yuen2017 G

ERBB4

2-1526-004

chr2:
212926219-212926222

GACA

G

intronic

De novo

-

Yuen2017 G

ERBB4

2-0144-004

chr2:
213445572-213445573

TA

T

intergenic

De novo

-

Yuen2017 G

ERBB4

13649.p1

chr2:
212624578-212624578

C

T

intronic

De novo

-

Turner2016 G

ERBB4

AU3702307

chr2:
213014423-213014423

T

C

intronic

De novo

-

Yuen2017 G

ERBB4

13023.p1

chr2:
213226763-213226763

T

C

intronic

De novo

-

Turner2016 G

ERBB4

AU2129301

chr2:
213160059-213160059

G

T

intronic

De novo

-

Yuen2017 G

ERBB4

AU4015302

chr2:
212987600-212987600

C

T

intronic

De novo

-

Yuen2017 G

ERBB4

14590.p1

chr2:
213381054-213381054

T

A

intronic

De novo

-

Turner2016 G

ERBB4

1-0402-004

chr2:
212824244-212824244

T

C

intronic

De novo

-

Yuen2017 G

ERBB4

AU047904

chr2:
213437102-213437102

C

T

intergenic

De novo

-

Yuen2017 G

ERBB4

5-0014-004

chr2:
212422387-212422387

C

CATTGTTGT

intronic

De novo

-

Yuen2017 G

ERBB4

11860.p1

chr2:
212569993-212569993

T

A

intronic

De novo

-

2.0E-4

Satterstrom2020 E

ERBB4

14509.p1

chr2:
212522487-212522487

T

C

exonic

De novo

synonymous SNV

NM_001042599
NM_005235

c.A1938G
c.A1938G

p.Q646Q
p.Q646Q

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G

ERBB4

2-1425-004

chr2:
213212426-213212426

T

G

intronic

De novo

-

Yuen2017 G

ERBB4

2-1737-003

chr2:
213393023-213393023

T

C

intronic

De novo

-

Yuen2017 G

ERBB4

1-0661-003

chr2:
212561586-212561586

G

A

intronic

De novo

-

Yuen2017 G

ERBB4

1-0169-003

chr2:
213385487-213385487

A

G

intronic

De novo

-

Yuen2017 G

ERBB4

2-1188-003

chr2:
212341824-212341824

T

C

intronic

De novo

-

Yuen2017 G

ERBB4

2-1416-003

chr2:
212867163-212867163

C

T

intronic

De novo

-

Yuen2017 G

ERBB4

AU2410302

chr2:
212406264-212406264

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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