Variant Results

or

Results for "DLC1"

Variant Events: 32

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

DLC1

2-1093-009

chr8:
12957871-12957871

T

C

exonic

De novo

nonsynonymous SNV

NM_001164271
NM_001316668
NM_006094
NM_182643

c.A442G
c.A766G
c.A664G
c.A1975G

p.T148A
p.T256A
p.T222A
p.T659A

3.359

-

Yuen2017 G

DLC1

AU1933302

chr8:
12955458-12955458

C

T

intronic

De novo

-

Yuen2017 G

DLC1

A2

chr8:
13384833-13384833

A

C

intergenic

De novo

-

Wu2018 G

DLC1

1-0469-005

chr8:
13092950-13092950

A

G

intronic

De novo

-

Yuen2017 G

DLC1

AU1988302

chr8:
13074194-13074194

C

T

intronic

De novo

-

Yuen2017 G

DLC1

A16

chr8:
12952206-12952206

C

T

intronic

De novo

-

Wu2018 G

DLC1

1-0279-004

chr8:
13176777-13176777

C

T

intronic

De novo

-

Yuen2017 G

DLC1

1-0436-003

chr8:
13324534-13324538

AATAT

AAT

intronic

De novo

-

Yuen2017 G

DLC1

1-0554-003

chr8:
13094359-13094359

A

G

intronic

De novo

-

Yuen2017 G

DLC1

AU3053301

chr8:
13093698-13093698

G

A

intronic

De novo

-

Yuen2017 G

DLC1

1-0368-004

chr8:
12947941-12947941

G

A

exonic

De novo

synonymous SNV

NM_001164271
NM_001316668
NM_006094
NM_182643

c.C2361T
c.C2685T
c.C2583T
c.C3894T

p.T787T
p.T895T
p.T861T
p.T1298T

-

1.651E-5

Yuen2017 G

DLC1

2-0299-003

chr8:
13175181-13175181

T

G

intronic

De novo

-

Yuen2017 G

DLC1

1-0218-003

chr8:
13305703-13305703

A

G

intronic

De novo

-

Yuen2017 G

DLC1

AU4089302

chr8:
13079576-13079576

T

G

intronic

De novo

-

Yuen2017 G

DLC1

2-1629-003

chr8:
13126083-13126083

G

A

intronic

De novo

-

Yuen2017 G

DLC1

SSC03444

chr8:
13357486-13357486

T

C

exonic

De novo

nonsynonymous SNV

NM_024767
NM_182643

c.A95G
c.A95G

p.H32R
p.H32R

15.52

-

Lim2017 E

DLC1

11937.p1

chr8:
13357486-13357486

T

C

exonic

De novo

nonsynonymous SNV

NM_024767
NM_182643

c.A95G
c.A95G

p.H32R
p.H32R

15.52

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E

DLC1

2-1389-003

chr8:
13281264-13281264

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

DLC1

PN400118

chr8:
12950308-12950308

C

A

exonic

Unknown

nonsynonymous SNV

NM_001164271
NM_001316668
NM_006094
NM_182643

c.G2020T
c.G2344T
c.G2242T
c.G3553T

p.A674S
p.A782S
p.A748S
p.A1185S

35.0

-

Leblond2019 E

DLC1

2-1440-003

chr8:
13154429-13154429

A

G

intronic

De novo

-

Yuen2017 G

DLC1

AU3891304

chr8:
13066150-13066150

A

G

intronic

De novo

-

Yuen2017 G

DLC1

2-1169-004

chr8:
13245071-13245071

G

T

intronic

De novo

-

Yuen2017 G

DLC1

AU3768302

chr8:
12958716-12958716

G

A

intronic

De novo

-

Yuen2017 G

DLC1

5-0015-003

chr8:
13237685-13237685

A

G

intronic

De novo

-

Yuen2017 G

DLC1

2-1146-003

chr8:
13407475-13407475

C

A

intergenic

De novo

-

Yuen2017 G

DLC1

2-0127-004

chr8:
13318069-13318069

C

T

intronic

De novo

-

Yuen2017 G

DLC1

7-0095-003

chr8:
13007835-13007835

G

T

intronic

De novo

-

Yuen2017 G

DLC1

AU3900301

chr8:
13026174-13026174

C

G

intronic

De novo

-

Yuen2017 G

DLC1

PN400347

chr8:
12958146-12958146

G

A

exonic

Unknown

nonsynonymous SNV

NM_001164271
NM_001316668
NM_006094
NM_182643

c.C167T
c.C491T
c.C389T
c.C1700T

p.P56L
p.P164L
p.P130L
p.P567L

20.8

2.0E-4

Leblond2019 E

DLC1

AU2140305

chr8:
13364738-13364738

T

G

intronic

De novo

-

Yuen2017 G

DLC1

AU3727302

chr8:
13218723-13218723

G

A

intronic

De novo

-

Yuen2017 G

DLC1

PN400213

chr8:
12950308-12950308

C

A

exonic

Unknown

nonsynonymous SNV

NM_001164271
NM_001316668
NM_006094
NM_182643

c.G2020T
c.G2344T
c.G2242T
c.G3553T

p.A674S
p.A782S
p.A748S
p.A1185S

35.0

-

Leblond2019 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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