Variant Results

or

Results for "SDK1"

Variant Events: 100

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

SDK1

1-0439-003

chr7:
4509677-4509677

T

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SDK1

7-0068-003

chr7:
4391539-4391539

A

C

intergenic

De novo

-

Yuen2017 G

SDK1

2-1269-003

chr7:
3963280-3963280

G

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

SDK1

SSC02395

chr7:
3998632-3998632

G

A

exonic

De novo

nonsynonymous SNV

NM_152744

c.G1220A

p.G407E

0.371

-

Lim2017 E

SDK1

1-0377-003

chr7:
3851269-3851269

A

AT

intronic

De novo

-

Yuen2017 G

SDK1

2-1729-003

chr7:
4176236-4176236

G

T

intronic

De novo

-

Yuen2017 G

SDK1

AU3053301

chr7:
3509106-3509106

T

G

intronic

De novo

-

Yuen2017 G

SDK1

1-0579-003

chr7:
3365651-3365651

C

T

intronic

De novo

-

Yuen2017 G

SDK1

5-0055-003

chr7:
4536925-4536925

T

TC

intergenic

De novo

-

Yuen2017 G

SDK1

7-0100-004

chr7:
4190409-4190409

A

G

intronic

De novo

-

Yuen2017 G

SDK1

2-1235-003

chr7:
3605546-3605546

G

A

intronic

De novo

-

Yuen2017 G

SDK1

1-0756-004

chr7:
3391666-3391666

C

T

intronic

De novo

-

Yuen2017 G

SDK1

7-0095-004

chr7:
4041433-4041437

TTGTC

T

intronic

De novo

-

Yuen2017 G

SDK1

1-0150-004

chr7:
3580200-3580200

G

T

intronic

De novo

-

Yuen2017 G

SDK1

2-1235-003

chr7:
4185819-4185819

C

A

intronic

De novo

-

Yuen2017 G

SDK1

2-1322-004

chr7:
4607907-4607907

G

T

intergenic

De novo

-

Yuen2017 G

SDK1

2-0304-004

chr7:
4068186-4068186

A

G

intronic

De novo

-

Yuen2017 G

SDK1

7-0059-003

chr7:
4649339-4649339

C

T

intergenic

De novo

-

Yuen2017 G

SDK1

1-0530-003

chr7:
4609020-4609020

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SDK1

2-1358-003

chr7:
4124179-4124179

G

A

intronic

De novo

-

Yuen2017 G

SDK1

A26

chr7:
3790175-3790175

G

C

intronic

De novo

-

Wu2018 G

SDK1

13515.p1

chr7:
3627830-3627830

C

T

intronic

De novo

-

Turner2016 G

SDK1

1-0534-006

chr7:
4096500-4096500

G

GACCATTCTGCTCCGGGTCCCGAC

intronic

De novo

-

Yuen2017 G

SDK1

12449.p1

chr7:
4338607-4338607

A

G

intergenic

De novo

-

Turner2016 G

SDK1

AU4067303

chr7:
4651492-4651492

A

G

intergenic

De novo

-

Yuen2017 G

SDK1

AU3874303

chr7:
3470425-3470425

C

G

intronic

De novo

-

Yuen2017 G

SDK1

AU4243302

chr7:
4033790-4033790

G

A

intronic

De novo

-

Yuen2017 G

SDK1

14642.p1

chr7:
4423620-4423620

G

T

intergenic

De novo

-

Turner2016 G

SDK1

1-0496-003

chr7:
4090024-4090024

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

SDK1

AU3849302

chr7:
4550527-4550527

C

T

intergenic

De novo

-

Yuen2017 G

SDK1

12449.p1

chr7:
4338614-4338614

T

C

intergenic

De novo

-

Turner2016 G

SDK1

12449.p1

chr7:
4338619-4338619

A

G

intergenic

De novo

-

Turner2016 G

SDK1

2-0298-003

chr7:
4119870-4119870

G

A

intronic

De novo

-

Yuen2017 G

SDK1

AU4212303

chr7:
4713306-4713306

A

T

intergenic

De novo

-

Yuen2017 G

SDK1

2-0208-003

chr7:
3761627-3761627

T

C

intronic

De novo

-

Yuen2017 G

SDK1

AU4410302

chr7:
4640692-4640692

A

G

intergenic

De novo

-

Yuen2017 G

SDK1

1-0142-005

chr7:
3647442-3647443

AC

A

intronic

De novo

-

Yuen2017 G

SDK1

1-0272-004

chr7:
3562599-3562599

T

TGGC

intronic

De novo

-

Yuen2017 G

SDK1

AU1742302

chr7:
3536838-3536838

C

T

intronic

De novo

-

Yuen2017 G

SDK1

7-0055-003

chr7:
4247447-4247447

C

T

intronic

De novo

-

Yuen2017 G

SDK1

7-0219-003

chr7:
3776106-3776106

G

A

intronic

De novo

-

Yuen2017 G

SDK1

1-0209-003

chr7:
4667113-4667113

G

A

intergenic

De novo

-

Yuen2017 G

SDK1

AU2129303

chr7:
3626688-3626688

G

A

intronic

De novo

-

Yuen2017 G

SDK1

AU2129303

chr7:
4598354-4598354

G

C

intergenic

De novo

-

Yuen2017 G

SDK1

2-0135-004

chr7:
3444811-3444811

A

AC

intronic

De novo

-

Yuen2017 G

SDK1

2-1426-003

chr7:
4702619-4702619

C

T

intergenic

De novo

-

Yuen2017 G

SDK1

2-1283-003

chr7:
3393059-3393059

C

T

intronic

De novo

-

Yuen2017 G

SDK1

AU3175303

chr7:
3589149-3589149

G

T

intronic

De novo

-

Yuen2017 G

SDK1

AU021204

chr7:
3619028-3619028

A

G

intronic

De novo

-

Yuen2017 G

SDK1

2-0244-003

chr7:
3953216-3953216

T

G

intronic

De novo

-

Yuen2017 G

SDK1

1-1000-003

chr7:
4003930-4003930

C

T

intronic

De novo

-

Yuen2017 G

SDK1

1-0158-003

chr7:
3358641-3358641

T

C

intronic

De novo

-

Yuen2017 G

SDK1

1-0906-003

chr7:
3896736-3896736

G

A

intronic

De novo

-

Yuen2017 G

SDK1

AU4079302

chr7:
4311355-4311360

TGGGGG

TGGGG

intergenic

De novo

-

Yuen2017 G

SDK1

1-0559-004

chr7:
3486880-3486885

ATAACT

A

intronic

De novo

-

Yuen2017 G

SDK1

AU3634301

chr7:
3542113-3542113

C

A

intronic

De novo

-

Yuen2017 G

SDK1

2-1213-003

chr7:
3790046-3790046

G

T

intronic

De novo

-

Yuen2017 G

SDK1

AU076509

chr7:
4513952-4513952

C

G

intergenic

De novo

-

Yuen2017 G

SDK1

2-0299-003

chr7:
4169725-4169725

C

T

exonic

De novo

synonymous SNV

NM_152744

c.C4125T

p.D1375D

-

1.0E-4

Yuen2017 G

SDK1

AU076509

chr7:
4514394-4514394

T

G

intergenic

De novo

-

Yuen2017 G

SDK1

1-0559-004

chr7:
3562599-3562599

T

TGGC

intronic

De novo

-

Yuen2017 G

SDK1

7-0024-003

chr7:
4717509-4717509

T

C

intergenic

De novo

-

Yuen2017 G

SDK1

AU025704

chr7:
3997003-3997003

G

A

intronic

De novo

-

Yuen2017 G

SDK1

1-0382-004

chr7:
4123783-4123783

C

G

intronic

De novo

-

Yuen2017 G

SDK1

AU4327303

chr7:
4085889-4085889

C

T

intronic

De novo

-

Yuen2017 G

SDK1

1-0215-006

chr7:
3504485-3504488

CAAT

C

intronic

De novo

-

Yuen2017 G

SDK1

AU076808

chr7:
4063890-4063890

G

T

intronic

De novo

-

Yuen2017 G

SDK1

1-0465-003

chr7:
4363185-4363185

A

G

intergenic

De novo

-

Yuen2017 G

SDK1

7-0095-003

chr7:
4041433-4041437

TTGTC

T

intronic

De novo

-

Yuen2017 G

SDK1

1-0402-003

chr7:
3965703-3965703

A

G

intronic

De novo

-

Yuen2017 G

SDK1

AU3637301

chr7:
4279997-4280000

CTGT

CT

intronic

De novo

-

Yuen2017 G

SDK1

2-1731-003

chr7:
3561032-3561032

T

A

intronic

De novo

-

Yuen2017 G

SDK1

11226.p1

chr7:
3998632-3998632

G

A

exonic

De novo

nonsynonymous SNV

NM_152744

c.G1220A

p.G407E

0.371

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E

SDK1

1-0121-003

chr7:
4141798-4141799

GC

G

intronic

De novo

-

Yuen2017 G

SDK1

2-1085-004

chr7:
4123426-4123426

T

C

intronic

De novo

-

Yuen2017 G

SDK1

1-0294-003

chr7:
3416898-3416898

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

SDK1

1-0044-003

chr7:
4123470-4123470

T

TTTACTTC

intronic

De novo

-

Yuen2017 G

SDK1

AU2000305

chr7:
3927413-3927413

G

T

intronic

De novo

-

Yuen2017 G

SDK1

2-1314-003

chr7:
4184578-4184578

A

C

intronic

De novo

-

Yuen2016 G

SDK1

1-0546-003

chr7:
4498294-4498294

G

T

intergenic

De novo

-

Yuen2017 G

SDK1

2-1283-004

chr7:
3393059-3393059

C

T

intronic

De novo

-

Yuen2017 G

SDK1

1-0455-003

chr7:
4123446-4123446

T

TA

intronic

De novo

-

Yuen2017 G

SDK1

1-0404-003

chr7:
4169746-4169746

C

T

intronic

De novo

-

4.503E-5

Yuen2017 G

SDK1

2-1430-003

chr7:
3716838-3716852

ATGTGTGTGTGTGTG

ATGTGTGTGTGTG

intronic

De novo

-

Yuen2017 G

SDK1

AU1987304

chr7:
3381161-3381161

C

G

intronic

De novo

-

Yuen2017 G

SDK1

AU061104

chr7:
3520146-3520146

G

A

intronic

De novo

-

Yuen2017 G

SDK1

1-0278-003

chr7:
3900431-3900431

C

G

intronic

De novo

-

Yuen2016 G

SDK1

1-0079-008

chr7:
3414529-3414529

C

T

intronic

De novo

-

Yuen2017 G

SDK1

1-0677-003

chr7:
4589248-4589248

A

G

intergenic

De novo

-

Yuen2017 G

SDK1

3-0216-000

chr7:
4667377-4667377

C

G

intergenic

De novo

-

Yuen2017 G

SDK1

04C35995

chr7:
4002399-4002399

C

T

exonic

De novo

nonsynonymous SNV

NM_152744

c.C1345T

p.R449C

15.66

1.703E-5

Satterstrom2020 E

SDK1

2-0202-004

chr7:
3427363-3427367

CCTGT

C

intronic

De novo

-

Yuen2017 G

SDK1

13632.p1

chr7:
4215360-4215360

C

T

intronic

De novo

-

5.77E-5

Satterstrom2020 E

SDK1

AU4007301

chr7:
3938122-3938122

T

G

intronic

De novo

-

Yuen2017 G

SDK1

2-1120-003

chr7:
3766072-3766072

A

C

intronic

De novo

-

Yuen2017 G

SDK1

5-0114-003

chr7:
4278408-4278408

C

T

intronic

De novo

-

Yuen2017 G

SDK1

AU3984301

chr7:
4235463-4235463

C

T

intronic

De novo

-

Yuen2017 G

SDK1

1-0065-004

chr7:
3562599-3562599

T

TGGC

intronic

De novo

-

Yuen2017 G

SDK1

1-0286-004

chr7:
3405755-3405761

CTCTAAT

C

intronic

De novo

-

Yuen2017 G

SDK1

AU0786305

chr7:
4659031-4659035

GTCTC

GTCTCTC

intergenic

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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