Variant Results

or

Results for "Bruno2021"

Variant Events: 26

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

NCOR2

Bruno2021:VII

chr12:
124827626-124827626

C

T

exonic

Paternal

nonsynonymous SNV

NM_001077261
NM_001206654
NM_006312

c.G4831A
c.G4831A
c.G4861A

p.V1611M
p.V1611M
p.V1621M

11.41

1.701E-5

Bruno2021 E

NCOA1

Bruno2021:VI

chr2:
24964748-24964748

G

A

exonic

De novo

nonsynonymous SNV

NM_003743
NM_147223
NM_147233

c.G3399A
c.G3399A
c.G3399A

p.M1133I
p.M1133I
p.M1133I

12.77

-

Bruno2021 E

KCNQ2

Bruno2021:IX

chr20:
62076074-62076074

G

A

exonic

De novo

-

Bruno2021 E

NCOR2

Bruno2021:VII

chr12:
124824869-124824869

G

A

exonic

Maternal

nonsynonymous SNV

NM_001077261
NM_001206654
NM_006312

c.C5429T
c.C5429T
c.C5459T

p.T1810M
p.T1810M
p.T1820M

8.853

0.0047

Bruno2021 E

PCDHA1

Bruno2021:III

chr5:
140166548-140166548

A

AGGTA

exonic

De novo

frameshift insertion

NM_018900
NM_031410
NM_031411

c.673_674insGGTA
c.673_674insGGTA
c.673_674insGGTA

p.T225fs
p.T225fs
p.T225fs

-

Bruno2021 E

RGPD4

Bruno2021:V

chr2:
108455329-108455329

G

T

exonic

De novo

nonsynonymous SNV

NM_182588

c.G314T

p.C105F

7.539

0.0083

Bruno2021 E

MAOB

Bruno2021:V

chrX:
43640762-43640762

C

T

exonic

Maternal

nonsynonymous SNV

NM_000898

c.G958A

p.E320K

29.9

2.0E-4

Bruno2021 E

TYRO3

Bruno2021:XIV

chr15:
41862356-41862356

T

C

splicing

De novo

splicing

21.7

-

Bruno2021 E

MAP3K10

Bruno2021:XIV

chr19:
40719910-40719910

C

G

exonic

De novo

nonsynonymous SNV

NM_002446

c.C2324G

p.S775C

18.35

-

Bruno2021 E

SLC8A1

Bruno2021:XVII

chr2:
40392055-40392055

C

T

exonic

De novo

nonsynonymous SNV

NM_001112801
NM_001112802
NM_001112800
NM_001252624
NM_021097

c.G2069A
c.G2000A
c.G2093A
c.G2084A
c.G2108A

p.R690H
p.R667H
p.R698H
p.R695H
p.R703H

19.87

4.125E-5

Bruno2021 E

CNOT1

Bruno2021:XVII

chr16:
58608934-58608934

T

C

exonic

De novo

nonsynonymous SNV

NM_001265612
NM_016284
NM_206999

c.A1804G
c.A1804G
c.A1804G

p.T602A
p.T602A
p.T602A

18.08

-

Bruno2021 E

SMAD6

Bruno2021:XIV

chr15:
66995736-66995736

C

CC

exonic

De novo

frameshift insertion

NM_005585

c.140dupC

p.P47fs

-

Bruno2021 E

SHANK3

Bruno2021:XIII

chr22:
51143244-51143249

GTGTGG

G

exonic

De novo

frameshift deletion

NM_033517

c.1809_1813del

p.G603fs

-

Bruno2021 E

TYRO3

Bruno2021:XIV

chr15:
41861222-41861222

T

A

splicing

De novo

splicing

20.6

-

Bruno2021 E

NRXN2

Bruno2021:XIV

chr11:
64453394-64453394

G

C

exonic

De novo

-

Bruno2021 E

HUWE1

Bruno2021:XX

chrX:
53574793-53574796

TGGT

T

exonic

De novo

nonframeshift deletion

NM_031407

c.10474_10476del

p.3492_3492del

-

Bruno2021 E

MAP3K5

Bruno2021:XIX

chr6:
136944071-136944071

C

A

exonic

De novo

nonsynonymous SNV

NM_005923

c.G2065T

p.G689C

32.0

-

Bruno2021 E

PHF8

Bruno2021:XXIII

chrX:
54011416-54011419

CCTC

C

exonic

De novo

nonframeshift deletion

NM_001184897
NM_001184896
NM_015107
NM_001184898

c.2068_2070del
c.2479_2481del
c.2371_2373del
c.2320_2322del

p.690_690del
p.827_827del
p.791_791del
p.774_774del

-

Bruno2021 E

KMT2B

Bruno2021:XXI

chr19:
36214675-36214675

A

C

exonic

De novo

nonsynonymous SNV

NM_014727

c.A3101C

p.E1034A

13.3

-

Bruno2021 E

IPO7

Bruno2021:XVII

chr11:
9446481-9446481

T

C

exonic

De novo

nonsynonymous SNV

NM_006391

c.T1162C

p.S388P

27.5

-

Bruno2021 E

CDC7

Bruno2021:XVII

chr1:
91977243-91977243

T

G

exonic

De novo

nonsynonymous SNV

NM_001134419
NM_001134420
NM_003503

c.T425G
c.T425G
c.T425G

p.F142C
p.F142C
p.F142C

21.6

-

Bruno2021 E

FGF13

Bruno2021:XIX

chrX:
137939724-137939727

AAGA

A

exonic

De novo

nonframeshift deletion

NM_001139502
NM_001139500
NM_001139501

c.77_79del
c.164_166del
c.77_79del

p.26_27del
p.55_56del
p.26_27del

-

Bruno2021 E

POTEH

Bruno2021:XVII

chr22:
16287339-16287339

C

T

exonic

De novo

nonsynonymous SNV

NM_001136213

c.G547A

p.A183T

14.41

2.0E-4

Bruno2021 E

POU3F2

Bruno2021:XXIII

chr6:
99283189-99283192

AGCA

A

exonic

De novo

nonframeshift deletion

NM_005604

c.441_443del

p.147_148del

-

Bruno2021 E

SORBS1

Bruno2021:XXIII

chr10:
97114672-97114672

T

G

exonic

De novo

nonsynonymous SNV

NM_001034957
NM_006434
NM_001290295
NM_001290297
NM_001290298
NM_015385
NM_024991
NM_001034956
NM_001290296
NM_001034954
NM_001034955
NM_001290294

c.A1299C
c.A1299C
c.A1326C
c.A1512C
c.A1617C
c.A1695C
c.A1422C
c.A1734C
c.A2091C
c.A2181C
c.A2247C
c.A2043C

p.E433D
p.E433D
p.E442D
p.E504D
p.E539D
p.E565D
p.E474D
p.E578D
p.E697D
p.E727D
p.E749D
p.E681D

18.9

-

Bruno2021 E

DDX3X

Bruno2021:LX

chrX:
41201762-41201762

G

T

exonic

Maternal

nonsynonymous SNV

NM_001193417
NM_001193416
NM_001356

c.G251T
c.G299T
c.G299T

p.G84V
p.G100V
p.G100V

21.9

-

Bruno2021 E

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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