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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
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