Variant Results

or

Results for "Jiang2013"

Variant Events: 56

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

MOV10

2-1272-003

chr1:
113235478-113235478

G

A

exonic

De novo

nonsynonymous SNV

NM_001130079
NM_020963
NM_001286072

c.G1067A
c.G1067A
c.G899A

p.R356Q
p.R356Q
p.R300Q

29.3

-

Jiang2013 G

CFAP45

2-1329-003

chr1:
159846398-159846398

C

T

exonic

De novo

nonsynonymous SNV

NM_012337

c.G1300A

p.A434T

9.573

1.659E-5

Jiang2013 G

NAV1

2-1363-003

chr1:
201687561-201687561

C

A

exonic

De novo

nonsynonymous SNV

NM_020443

c.C904A

p.R302S

19.31

-

Jiang2013 G

KIAA1217

2-1370-003

chr10:
24802273-24802273

T

C

exonic

De novo

nonsynonymous SNV

NM_001282769
NM_001282770
NM_001282767
NM_001282768
NM_019590
NM_001098500

c.T1136C
c.T1136C
c.T1982C
c.T1982C
c.T2087C
c.T1847C

p.L379P
p.L379P
p.L661P
p.L661P
p.L696P
p.L616P

15.45

-

Jiang2013 G

USP54

2-1370-003

chr10:
75294480-75294480

T

TT

exonic

De novo

frameshift insertion

NM_152586

c.1193dupA

p.E398fs

-

Jiang2013 G

SFTPD

2-1329-003

chr10:
81702258-81702258

G

A

exonic

De novo

nonsynonymous SNV

NM_003019

c.C319T

p.P107S

17.26

-

Jiang2013 G

SLK

2-1295-003

chr10:
105768025-105768025

C

T

exonic

De novo

nonsynonymous SNV

NM_001304743
NM_014720

c.C2695T
c.C2695T

p.R899C
p.R899C

29.4

8.264E-6

Jiang2013 G

MICALCL

2-1276-003

chr11:
12316171-12316171

C

CA

exonic

De novo

frameshift insertion

NM_032867

c.1193_1194insA

p.S398fs

-

7.0E-4

Jiang2013 G

CAPRIN1

2-1305-003

chr11:
34107924-34107924

C

T

exonic

De novo

stopgain

NM_005898
NM_203364

c.C1195T
c.C1195T

p.Q399X
p.Q399X

37.0

-

Jiang2013 G

ZFPL1

2-1360-003

chr11:
64852255-64852255

G

A

exonic

De novo

nonsynonymous SNV

NM_006782

c.G85A

p.V29I

21.8

-

Jiang2013 G

FAT3

2-1370-003

chr11:
92600180-92600180

G

A

exonic

De novo

nonsynonymous SNV

NM_001008781

c.G11932A

p.V3978M

27.6

-

Jiang2013 G

CACNA1C

2-1244-003

chr12:
2775890-2775890

G

A

exonic

Inherited

nonsynonymous SNV

NM_001129837
NM_001129838
NM_001129839
NM_001129846
NM_001167625
NM_000719
NM_001129829
NM_001129830
NM_001129833
NM_001129834
NM_001129835
NM_001129836
NM_001129840
NM_001129841
NM_001129842
NM_001129843
NM_001129844
NM_001167623
NM_001167624
NM_001129831
NM_001129832
NM_001129827
NM_199460

c.G4532A
c.G4532A
c.G4526A
c.G4532A
c.G4532A
c.G4565A
c.G4631A
c.G4565A
c.G4565A
c.G4565A
c.G4565A
c.G4616A
c.G4565A
c.G4565A
c.G4565A
c.G4565A
c.G4556A
c.G4565A
c.G4565A
c.G4649A
c.G4625A
c.G4709A
c.G4709A

p.R1511Q
p.R1511Q
p.R1509Q
p.R1511Q
p.R1511Q
p.R1522Q
p.R1544Q
p.R1522Q
p.R1522Q
p.R1522Q
p.R1522Q
p.R1539Q
p.R1522Q
p.R1522Q
p.R1522Q
p.R1522Q
p.R1519Q
p.R1522Q
p.R1522Q
p.R1550Q
p.R1542Q
p.R1570Q
p.R1570Q

29.3

-

Jiang2013 G

TBC1D30

2-1266-003

chr12:
65269243-65269243

C

T

exonic

De novo

nonsynonymous SNV

NM_015279

c.C1961T

p.A654V

0.612

4.0E-4

Jiang2013 G

HCAR1

2-1314-003

chr12:
123213933-123213933

G

A

exonic

De novo

synonymous SNV

NM_032554

c.C954T

p.L318L

-

8.236E-6

Jiang2013 G

CEP170B

2-1291-003

chr14:
105354151-105354151

G

A

exonic

De novo

nonsynonymous SNV

NM_015005
NM_001112726

c.G3365A
c.G3575A

p.R1122H
p.R1192H

16.31

1.0E-4

Jiang2013 G

COPS2

2-1368-003

chr15:
49426143-49426143

G

A

exonic

De novo

nonsynonymous SNV

NM_001143887
NM_004236

c.C899T
c.C878T

p.P300L
p.P293L

32.0

-

Jiang2013 G

INPP5K

2-1239-003

chr17:
1411432-1411432

C

T

exonic

De novo

nonsynonymous SNV

NM_016532
NM_130766
NM_001135642

c.G643A
c.G415A
c.G415A

p.G215S
p.G139S
p.G139S

2.8

0.0024

Jiang2013 G

DCAKD

2-0704-003

chr17:
43111636-43111636

G

T

exonic

De novo

synonymous SNV

NM_001128631
NM_001288654
NM_001288655
NM_024819

c.C235A
c.C235A
c.C235A
c.C235A

p.R79R
p.R79R
p.R79R
p.R79R

-

Jiang2013 G

DNMT3A

2-1276-003

chr2:
25466800-25466800

G

A

exonic

De novo

nonsynonymous SNV

NM_153759
NM_022552
NM_175629

c.C1336T
c.C1903T
c.C1903T

p.R446W
p.R635W
p.R635W

28.0

9.526E-5

Jiang2013 G

SOS1

2-1329-003

chr2:
39249972-39249972

C

T

exonic

Inherited

nonsynonymous SNV

NM_005633

c.G1597A

p.E533K

26.8

-

Jiang2013 G

NRXN1

2-1116-003

chr2:
50724817-50724817

G

A

exonic

Inherited

nonsynonymous SNV

NM_004801
NM_001135659

c.C2533T
c.C2653T

p.H845Y
p.H885Y

32.0

6.0E-4

Jiang2013 G

ARID5A

2-1116-003

chr2:
97215971-97215971

G

T

exonic

De novo

nonsynonymous SNV

NM_212481

c.G359T

p.G120V

29.1

-

Jiang2013 G

ARL6IP6

2-1379-003

chr2:
153575211-153575211

C

G

exonic

De novo

nonsynonymous SNV

NM_152522

c.C73G

p.R25G

13.07

-

Jiang2013 G

SCN2A

2-1291-003

chr2:
166152415-166152415

C

T

exonic

Inherited

nonsynonymous SNV

NM_001040143
NM_001040142
NM_021007

c.C82T
c.C82T
c.C82T

p.R28C
p.R28C
p.R28C

23.7

2.0E-4

Jiang2013 G

SCN2A

2-1337-003

chr2:
166170552-166170584

TGAACAGAAGGAAGCTGAATTTCAGCAGATGCT

T

exonic

De novo

frameshift deletion

NM_001040143
NM_001040142
NM_021007

c.1318_1349del
c.1318_1349del
c.1318_1349del

p.E440fs
p.E440fs
p.E440fs

-

Jiang2013 G

SATB2

2-1334-003

chr2:
200137173-200137173

G

A

exonic

Inherited

nonsynonymous SNV

NM_001172509
NM_001172517
NM_015265

c.C1963T
c.C1963T
c.C1963T

p.P655S
p.P655S
p.P655S

23.3

-

Jiang2013 G

SNX5

2-1352-003

chr20:
17923824-17923824

T

C

exonic

De novo

nonsynonymous SNV

NM_001282454
NM_014426
NM_152227

c.A779G
c.A1094G
c.A1094G

p.K260R
p.K365R
p.K365R

16.89

-

Jiang2013 G

KCNQ2

2-1269-003

chr20:
62055529-62055529

C

T

splicing

Inherited

splicing

15.27

-

Jiang2013 G

MICAL3

2-1363-003

chr22:
18387403-18387403

T

C

exonic

De novo

nonsynonymous SNV

NM_001122731
NM_001136004
NM_015241

c.A467G
c.A467G
c.A467G

p.H156R
p.H156R
p.H156R

24.7

-

Jiang2013 G

MAP4

2-1272-003

chr3:
47957453-47957453

T

C

exonic

De novo

nonsynonymous SNV

NM_001134364
NM_002375

c.A1864G
c.A1864G

p.M622V
p.M622V

1.269

-

Jiang2013 G

COL7A1

2-1368-003

chr3:
48621941-48621941

G

A

exonic

De novo

nonsynonymous SNV

NM_000094

c.C4096T

p.R1366W

10.44

3.296E-5

Jiang2013 G

IMPDH2

2-1239-003

chr3:
49064457-49064457

C

G

exonic

De novo

nonsynonymous SNV

NM_000884

c.G555C

p.L185F

16.57

-

Jiang2013 G

STXBP5L

2-1370-003

chr3:
120628487-120628487

G

A

exonic

De novo

nonsynonymous SNV

NM_001308330
NM_014980

c.G62A
c.G62A

p.G21D
p.G21D

14.6

-

Jiang2013 G

AHRR

2-1182-003

chr5:
422895-422895

C

G

exonic

De novo

nonsynonymous SNV

NM_001242412
NM_020731

c.C505G
c.C505G

p.Q169E
p.Q169E

19.68

-

Jiang2013 G

ITK

2-1239-003

chr5:
156679654-156679654

G

A

exonic

De novo

nonsynonymous SNV

NM_005546

c.G1829A

p.R610H

12.48

4.943E-5

Jiang2013 G

SLIT3

2-1272-003

chr5:
168175351-168175351

C

A

exonic

De novo

synonymous SNV

NM_001271946
NM_003062

c.G2226T
c.G2226T

p.G742G
p.G742G

-

Jiang2013 G

SYNE1

2-1369-003

chr6:
152771947-152771947

G

A

exonic

De novo

nonsynonymous SNV

NM_033071
NM_182961

c.C3229T
c.C3208T

p.P1077S
p.P1070S

14.12

-

Jiang2013 G

VIP

2-1186-003

chr6:
153075412-153075412

T

A

exonic

De novo

stopgain

NM_003381
NM_194435

c.T219A
c.T219A

p.Y73X
p.Y73X

37.0

-

Jiang2013 G

LRRC4

2-1295-003

chr7:
127670456-127670456

G

C

exonic

De novo

nonsynonymous SNV

NM_022143

c.C238G

p.L80V

18.92

-

Jiang2013 G

LRGUK

2-1303-003

chr7:
133842813-133842813

A

G

exonic

De novo

synonymous SNV

NM_144648

c.A696G

p.G232G

-

Jiang2013 G

SOX7

2-1352-003

chr8:
10583692-10583692

C

T

exonic

De novo

synonymous SNV

NM_031439

c.G723A

p.P241P

-

Jiang2013 G

CHD7

2-1272-003

chr8:
61742924-61742924

G

A

exonic

Inherited

nonsynonymous SNV

NM_017780

c.G3566A

p.R1189H

33.0

-

Jiang2013 G

DCAF13

2-1363-003

chr8:
104439424-104439424

T

G

exonic

De novo

nonsynonymous SNV

NM_015420

c.T1024G

p.C342G

11.78

-

Jiang2013 G

LAMC3

2-1363-003

chr9:
133942350-133942350

G

A

exonic

De novo

nonsynonymous SNV

NM_006059

c.G2351A

p.R784Q

14.49

5.891E-5

Jiang2013 G

EHMT1

2-1352-003

chr9:
140710435-140710435

C

G

exonic

Inherited

nonsynonymous SNV

NM_024757

c.C3295G

p.P1099A

33.0

-

Jiang2013 G

MXRA5

2-1280-003

chrX:
3248358-3248358

T

C

exonic

De novo

nonsynonymous SNV

NM_015419

c.A410G

p.N137S

16.56

-

Jiang2013 G

ANOS1

2-1303-003

chrX:
8522080-8522080

G

A

exonic

De novo

stopgain

NM_000216

c.C1267T

p.R423X

35.0

-

Jiang2013 G

WWC3

2-1330-003

chrX:
10104728-10104728

G

A

exonic

De novo

nonsynonymous SNV

NM_015691

c.G2819A

p.R940Q

36.0

-

Jiang2013 G

NR0B1

2-1266-003

chrX:
30327222-30327222

C

A

exonic

De novo

nonsynonymous SNV

NM_000475

c.G259T

p.A87S

16.21

-

Jiang2013 G

DMD

2-1330-003

chrX:
32364157-32364157

C

A

exonic

Inherited

nonsynonymous SNV

NM_004011
NM_004012
NM_000109
NM_004006
NM_004009
NM_004010

c.G1466T
c.G1457T
c.G5465T
c.G5489T
c.G5477T
c.G5120T

p.R489I
p.R486I
p.R1822I
p.R1830I
p.R1826I
p.R1707I

20.5

3.503E-5

Jiang2013 G

ZC3H12B

2-1353-003

chrX:
64719083-64719083

G

A

exonic

Inherited

nonsynonymous SNV

NM_001010888

c.G953A

p.R318Q

31.0

-

Jiang2013 G

NLGN3

2-1352-003

chrX:
70386983-70386983

G

A

exonic

Inherited

nonsynonymous SNV

NM_001166660
NM_018977
NM_181303

c.G916A
c.G976A
c.G1036A

p.V306M
p.V326M
p.V346M

11.68

-

Jiang2013 G

BCORL1

2-1375-003

chrX:
129150017-129150017

G

C

exonic

Inherited

nonsynonymous SNV

NM_001184772
NM_021946

c.G3269C
c.G3269C

p.R1090P
p.R1090P

17.45

2.0E-4

Jiang2013 G

ARHGEF6

2-1353-003

chrX:
135795456-135795456

C

A

exonic

Inherited

nonsynonymous SNV

NM_001306177
NM_004840

c.G344T
c.G806T

p.R115I
p.R269I

22.0

-

Jiang2013 G

AFF2

2-1269-003

chrX:
148069012-148069012

G

A

exonic

Inherited

nonsynonymous SNV

NM_001170628
NM_001169122
NM_001169124
NM_001169125
NM_001169123
NM_002025

c.G2662A
c.G3634A
c.G3634A
c.G3622A
c.G3709A
c.G3739A

p.V888I
p.V1212I
p.V1212I
p.V1208I
p.V1237I
p.V1247I

27.9

1.141E-5

Jiang2013 G

CLCNKB

2-1342-003

chr1:
16376358-16376358

C

G

exonic

De novo

nonsynonymous SNV

NM_001165945
NM_000085

c.C408G
c.C915G

p.I136M
p.I305M

9.328

-

Jiang2013 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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