Variant Results

or

Results for "SORBS2"

Variant Events: 27

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

SORBS2

AU2165301

chr4:
186921524-186921524

C

A

intergenic

De novo

-

Yuen2017 G

SORBS2

1-0551-004

chr4:
186938472-186938472

A

C

intergenic

De novo

-

Yuen2017 G

SORBS2

AU1795303

chr4:
186835456-186835456

G

A

intronic

De novo

-

Yuen2017 G

SORBS2

AU4234303

chr4:
186800289-186800290

TA

TAA

intronic

De novo

-

Yuen2017 G

SORBS2

1-0119-004

chr4:
186734486-186734486

T

A

intronic

De novo

-

Yuen2017 G

SORBS2

AU3889305

chr4:
186506526-186506530

AAATA

AAATAATA

downstream

De novo

-

Yuen2017 G

SORBS2

AU030804

chr4:
186577796-186577796

G

A

UTR5

De novo

-

Yuen2017 G

SORBS2

2-0242-003

chr4:
186617182-186617182

C

A

intronic

De novo

-

Yuen2017 G

SORBS2

AU3760302

chr4:
186527926-186527926

C

T

intronic

De novo

-

Yuen2017 G

SORBS2

2-0309-004

chr4:
186894665-186894665

C

T

intergenic

De novo

-

Yuen2017 G

SORBS2

5-0065-003

chr4:
186614732-186614732

C

A

intronic

De novo

-

Yuen2017 G

SORBS2

Cukier2014:7936

chr4:
186583330-186583330

A

G

exonic

Unknown

nonsynonymous SNV

NM_001145672
NM_021069
NM_001145671
NM_001145673
NM_003603
NM_001145670
NM_001270771

c.T229C
c.T22C
c.T280C
c.T559C
c.T160C
c.T280C
c.T322C

p.F77L
p.F8L
p.F94L
p.F187L
p.F54L
p.F94L
p.F108L

25.6

0.0089

Cukier2014 E

SORBS2

1-0745-003

chr4:
186981594-186981594

T

G

intergenic

De novo

-

Yuen2017 G

SORBS2

2-0304-004

chr4:
186974860-186974860

C

CTACTATTTATTT

intergenic

De novo

-

Yuen2017 G

SORBS2

1-0458-005

chr4:
186870275-186870275

G

A

intronic

De novo

-

Yuen2017 G

SORBS2

2-0244-003

chr4:
186894693-186894695

AAT

A

intergenic

De novo

-

Yuen2017 G

SORBS2

2-1633-003

chr4:
186699450-186699450

A

G

intronic

De novo

-

Yuen2017 G

SORBS2

1-0141-003

chr4:
186630457-186630457

T

TC

intronic

De novo

-

Yuen2017 G

SORBS2

1-0720-003

chr4:
186713645-186713645

C

T

intronic

De novo

-

Yuen2017 G

SORBS2

1-0467-005

chr4:
186670351-186670351

G

A

intronic

De novo

-

Yuen2017 G

SORBS2

AU4012302

chr4:
186793559-186793559

G

A

intronic

De novo

-

Yuen2017 G

SORBS2

2-1194-003

chr4:
186870518-186870518

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

SORBS2

AU4159301

chr4:
186567314-186567314

A

T

intronic

De novo

-

Yuen2017 G

SORBS2

AU4219302

chr4:
186688968-186688968

T

C

intronic

De novo

-

Yuen2017 G

SORBS2

11475.p1

chr4:
186539779-186539779

G

T

exonic

Mosaic

nonsynonymous SNV

NM_001145674
NM_001145675
NM_001145670
NM_001145672
NM_021069
NM_001145671
NM_001145673
NM_003603
NM_001270771

c.C2311A
c.C775A
c.C1231A
c.C1282A
c.C2599A
c.C1492A
c.C1771A
c.C1297A
c.C2899A

p.P771T
p.P259T
p.P411T
p.P428T
p.P867T
p.P498T
p.P591T
p.P433T
p.P967T

21.8

-

Dou2017 E

SORBS2

7-0256-003

chr4:
186983248-186983248

G

A

intergenic

De novo

-

Yuen2017 G

SORBS2

12120.p1

chr4:
186551791-186551791

C

T

intronic

De novo

-

9.33E-5

Krumm2015 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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