Variant Results

or

Results for "Uddin2014"

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

NAPRT

Uddin2014:45

chr8:
144659231-144659231

C

T

splicing

De novo

splicing

15.08

-

Uddin2014 E

KMT2C

Uddin2014:46

chr7:
151842339-151842339

G

T

exonic

De novo

stopgain

NM_170606

c.C14073A

p.Y4691X

55.0

1.65E-5

Uddin2014 E

LCN10

Uddin2014:43

chr9:
139636334-139636334

G

A

exonic

De novo

nonsynonymous SNV

NM_001001712

c.C256T

p.R86W

18.01

3.428E-5

Uddin2014 E

LCN10

Uddin2014:44

chr9:
139636334-139636334

G

A

exonic

De novo

nonsynonymous SNV

NM_001001712

c.C256T

p.R86W

18.01

3.428E-5

Uddin2014 E

SCN2A

Uddin2014:49

chr2:
166201379-166201379

C

A

exonic

De novo

stopgain

NM_001040143
NM_001040142
NM_021007

c.C2877A
c.C2877A
c.C2877A

p.C959X
p.C959X
p.C959X

42.0

-

Uddin2014 E

SCN2A

Uddin2014:50

chr2:
166210819-166210819

G

T

exonic

De novo

stopgain

NM_001040143
NM_001040142
NM_021007

c.G3037T
c.G3037T
c.G3037T

p.G1013X
p.G1013X
p.G1013X

40.0

-

Uddin2014 E

VIP

Uddin2014:47

chr6:
153075412-153075412

T

A

exonic

De novo

stopgain

NM_003381
NM_194435

c.T219A
c.T219A

p.Y73X
p.Y73X

37.0

-

Uddin2014 E

TBR1

Uddin2014:48

chr2:
162275553-162275553

A

C

exonic

De novo

nonsynonymous SNV

NM_006593

c.A1120C

p.N374H

17.63

-

Uddin2014 E

NCKAP1

Uddin2014:53

chr2:
183791570-183791570

C

A

exonic

De novo

stopgain

NM_013436
NM_205842

c.G3244T
c.G3262T

p.E1082X
p.E1088X

48.0

-

Uddin2014 E

CUL3

Uddin2014:54

chr2:
225376218-225376218

C

A

exonic

De novo

stopgain

NM_001257197
NM_001257198
NM_003590

c.G538T
c.G754T
c.G736T

p.E180X
p.E252X
p.E246X

40.0

-

Uddin2014 E

ATP1B1

Uddin2014:51

chr1:
169096506-169096506

C

T

exonic

De novo

stopgain

NM_001677

c.C427T

p.R143X

15.99

-

Uddin2014 E

LRP2

Uddin2014:52

chr2:
170042308-170042308

G

A

exonic

De novo

stopgain

NM_004525

c.C9550T

p.R3184X

53.0

-

Uddin2014 E

URB2

Uddin2014:55

chr1:
229783350-229783350

G

T

exonic

De novo

stopgain

NM_001314021
NM_014777

c.G4000T
c.G4000T

p.E1334X
p.E1334X

44.0

-

Uddin2014 E

TRIP12

Uddin2014:56

chr2:
230701696-230701696

G

A

exonic

De novo

stopgain

NM_001284216
NM_001284215
NM_004238
NM_001284214

c.C103T
c.C1012T
c.C1012T
c.C1138T

p.R35X
p.R338X
p.R338X
p.R380X

38.0

-

Uddin2014 E

ZMYND11

Uddin2014:1

chr10:
293337-293337

G

A

splicing

De novo

splicing

26.9

-

Uddin2014 E

ANOS1

Uddin2014:2

chrX:
8522080-8522080

G

T

exonic

De novo

synonymous SNV

NM_000216

c.C1267A

p.R423R

-

Uddin2014 E

SETD5

Uddin2014:5

chr3:
9490270-9490270

C

T

exonic

De novo

stopgain

NM_001080517
NM_001292043

c.C2302T
c.C2008T

p.R768X
p.R670X

46.0

-

Uddin2014 E

BRPF1

Uddin2014:6

chr3:
9786691-9786691

G

A

splicing

De novo

splicing

19.97

-

Uddin2014 E

CPZ

Uddin2014:3

chr4:
8620162-8620162

C

T

exonic

De novo

nonsynonymous SNV

NM_003652
NM_001014447
NM_001014448

c.C1477T
c.C1510T
c.C1099T

p.R493W
p.R504W
p.R367W

14.45

4.126E-5

Uddin2014 E

SCUBE2

Uddin2014:4

chr11:
9111272-9111272

C

A

exonic

De novo

stopgain

NM_001170690
NM_020974

c.G238T
c.G238T

p.E80X
p.E80X

37.0

-

Uddin2014 E

ESS2

Uddin2014:9

chr22:
19127459-19127459

T

C

exonic

De novo

nonsynonymous SNV

NM_022719

c.A479G

p.N160S

25.3

-

Uddin2014 E

RPS6KA3

Uddin2014:10

chrX:
20193403-20193403

G

C

exonic

De novo

stopgain

NM_004586

c.C1106G

p.S369X

37.0

-

Uddin2014 E

SLC6A1

Uddin2014:7

chr3:
11067472-11067472

C

T

exonic

De novo

nonsynonymous SNV

NM_003042

c.C863T

p.A288V

29.7

-

Uddin2014 E

LLGL1

Uddin2014:8

chr17:
18140835-18140835

C

T

exonic

De novo

nonsynonymous SNV

NM_004140

c.C1652T

p.A551V

9.231

2.834E-5

Uddin2014 E

ANO5

Uddin2014:13

chr11:
22276997-22276997

C

T

exonic

De novo

stopgain

NM_001142649
NM_213599

c.C1258T
c.C1261T

p.Q420X
p.Q421X

41.0

-

Uddin2014 E

EPHB2

Uddin2014:14

chr1:
23236941-23236941

C

T

exonic

De novo

stopgain

NM_001309192
NM_001309193
NM_004442
NM_017449

c.C2395T
c.C2569T
c.C2572T
c.C2569T

p.Q799X
p.Q857X
p.Q858X
p.Q857X

39.0

-

Uddin2014 E

MPHOSPH8

Uddin2014:11

chr13:
20235898-20235898

C

T

exonic

De novo

stopgain

NM_017520

c.C1852T

p.R618X

21.2

-

Uddin2014 E

DNAH11

Uddin2014:12

chr7:
21737764-21737764

A

G

exonic

De novo

nonsynonymous SNV

NM_001277115

c.A6113G

p.D2038G

13.28

-

Uddin2014 E

RNF38

Uddin2014:17

chr9:
36375929-36375929

A

G

splicing

De novo

splicing

20.7

-

Uddin2014 E

KATNAL2

Uddin2014:18

chr18:
44603833-44603833

G

C

splicing

De novo

splicing

16.29

-

Uddin2014 E

CAPRIN1

Uddin2014:15

chr11:
34107924-34107924

C

T

exonic

De novo

stopgain

NM_005898
NM_203364

c.C1195T
c.C1195T

p.Q399X
p.Q399X

37.0

-

Uddin2014 E

AGO1

Uddin2014:16

chr1:
36367118-36367118

C

T

exonic

De novo

nonsynonymous SNV

NM_001317123
NM_012199

c.C839T
c.C1064T

p.T280I
p.T355I

26.2

-

Uddin2014 E

CACNA1D

Uddin2014:21

chr3:
53764493-53764493

C

G

exonic

De novo

nonsynonymous SNV

NM_001128839
NM_001128840
NM_000720

c.C2246G
c.C2246G
c.C2306G

p.A749G
p.A749G
p.A769G

31.0

-

Uddin2014 E

CACNA2D3

Uddin2014:22

chr3:
54921984-54921984

A

G

splicing

De novo

splicing

17.81

-

Uddin2014 E

COL7A1

Uddin2014:19

chr3:
48621941-48621941

G

T

exonic

De novo

synonymous SNV

NM_000094

c.C4096A

p.R1366R

-

Uddin2014 E

RARG

Uddin2014:20

chr12:
53608241-53608241

T

A

exonic

De novo

stopgain

NM_001243732
NM_001042728
NM_001243731
NM_001243730
NM_000966

c.A559T
c.A592T
c.A262T
c.A409T
c.A625T

p.K187X
p.K198X
p.K88X
p.K137X
p.K209X

41.0

-

Uddin2014 E

RAB2A

Uddin2014:25

chr8:
61484622-61484622

C

T

exonic

De novo

stopgain

NM_001242644
NM_002865

c.C64T
c.C136T

p.R22X
p.R46X

28.2

-

Uddin2014 E

NFIA

Uddin2014:26

chr1:
61553905-61553905

C

T

exonic

De novo

stopgain

NM_001134673
NM_001145511
NM_005595
NM_001145512

c.C112T
c.C88T
c.C112T
c.C247T

p.R38X
p.R30X
p.R38X
p.R83X

40.0

-

Uddin2014 E

NLRC5

Uddin2014:23

chr16:
57095444-57095444

G

T

splicing

De novo

splicing

12.94

-

Uddin2014 E

LRP1

Uddin2014:24

chr12:
57594563-57594563

A

G

exonic

De novo

nonsynonymous SNV

NM_002332

c.A10190G

p.N3397S

18.06

-

Uddin2014 E

CDH5

Uddin2014:29

chr16:
66434715-66434715

C

T

exonic

De novo

nonsynonymous SNV

NM_001795

c.C1633T

p.R545W

19.21

3.299E-5

Uddin2014 E

KMT5B

Uddin2014:30

chr11:
67938481-67938481

C

T

splicing

De novo

splicing

16.07

-

Uddin2014 E

FEZF2

Uddin2014:27

chr3:
62356982-62356982

G

A

exonic

De novo

nonsynonymous SNV

NM_018008

c.C1030T

p.R344C

13.59

-

Uddin2014 E

MEGF11

Uddin2014:28

chr15:
66198459-66198459

G

A

exonic

De novo

nonsynonymous SNV

NM_032445

c.C2731T

p.R911C

16.38

1.0E-4

Uddin2014 E

CHD2

Uddin2014:33

chr15:
93518170-93518170

A

G

exonic

De novo

nonsynonymous SNV

NM_001271

c.A2567G

p.D856G

19.58

-

Uddin2014 E

ECM2

Uddin2014:34

chr9:
95277357-95277357

G

A

exonic

De novo

stopgain

NM_001197295
NM_001197296
NM_001393

c.C544T
c.C544T
c.C610T

p.R182X
p.R182X
p.R204X

14.02

2.472E-5

Uddin2014 E

NUP54

Uddin2014:31

chr4:
77038831-77038831

G

T

exonic

De novo

synonymous SNV

NM_001278603
NM_017426

c.C1237A
c.C1381A

p.R413R
p.R461R

-

Uddin2014 E

WDFY3

Uddin2014:32

chr4:
85719152-85719152

T

A

exonic

De novo

stopgain

NM_014991

c.A2932T

p.R978X

45.0

-

Uddin2014 E

MMP8

Uddin2014:37

chr11:
102593283-102593283

G

A

exonic

De novo

nonsynonymous SNV

NM_002424
NM_001304441
NM_001304442

c.C224T
c.C155T
c.C155T

p.T75M
p.T52M
p.T52M

32.0

8.239E-6

Uddin2014 E

CDC42BPB

Uddin2014:38

chr14:
103434646-103434646

G

A

exonic

De novo

stopgain

NM_006035

c.C2290T

p.R764X

23.0

-

Uddin2014 E

FGD3

Uddin2014:35

chr9:
95782633-95782633

A

G

exonic

De novo

nonsynonymous SNV

NM_001083536
NM_001286993
NM_033086

c.A1421G
c.A1421G
c.A1421G

p.N474S
p.N474S
p.N474S

15.54

-

Uddin2014 E

TBC1D23

Uddin2014:36

chr3:
100015120-100015120

G

C

splicing

De novo

splicing

19.61

-

Uddin2014 E

CSDE1

Uddin2014:41

chr1:
115280664-115280664

G

A

exonic

De novo

stopgain

NM_001242892
NM_001242893
NM_001007553
NM_007158
NM_001130523
NM_001242891

c.C229T
c.C229T
c.C229T
c.C229T
c.C367T
c.C367T

p.R77X
p.R77X
p.R77X
p.R77X
p.R123X
p.R123X

37.0

-

Uddin2014 E

CNOT4

Uddin2014:42

chr7:
135122938-135122938

C

T

exonic

De novo

nonsynonymous SNV

NM_001008225
NM_001190847
NM_001190848
NM_001190849
NM_001190850
NM_013316

c.G142A
c.G142A
c.G142A
c.G142A
c.G142A
c.G142A

p.D48N
p.D48N
p.D48N
p.D48N
p.D48N
p.D48N

21.4

-

Uddin2014 E

SMC3

Uddin2014:39

chr10:
112359556-112359556

C

T

exonic

De novo

nonsynonymous SNV

NM_005445

c.C2413T

p.R805C

21.7

8.245E-6

Uddin2014 E

ANK2

Uddin2014:40

chr4:
114232545-114232545

C

T

exonic

De novo

stopgain

NM_001148
NM_020977
NM_001127493

c.C2683T
c.C2683T
c.C2620T

p.R895X
p.R895X
p.R874X

42.0

-

Uddin2014 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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