Variant Results

or

or

Results for "KCNB2"

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

KCNB2

1-0197-003

chr8:
73763368-73763368

A

ACGTC

intronic

De novo

-

-

Yuen2017 G

KCNB2

7-0068-003

chr8:
73784119-73784119

A

G

intronic

De novo

-

-

Yuen2017 G

KCNB2

2-1255-003

chr8:
73632150-73632150

T

C

intronic

De novo

-

-

Yuen2017 G

KCNB2

1-0447-003

chr8:
73563379-73563379

G

A

intronic

De novo

-

-

Yuen2017 G

KCNB2

AU4149301

chr8:
73604285-73604285

C

T

intronic

De novo

-

-

Yuen2017 G

KCNB2

7-0256-003

chr8:
73568688-73568703

AAATAATAATAATAAT

AAATAATAATAAT

intronic

De novo

-

-

Yuen2017 G

KCNB2

1-0591-003

chr8:
73471242-73471256

CAGAGAGAGAGAGAG

CAGAGAGAGAGAG

intronic

De novo

-

-

Yuen2017 G

KCNB2

2-0272-004

chr8:
73574955-73574955

G

T

intronic

De novo

-

-

Yuen2017 G

KCNB2

2-1436-003

chr8:
73599836-73599836

T

C

intronic

De novo

-

-

Yuen2017 G

KCNB2

1-0138-004

chr8:
73613647-73613647

T

C

intronic

De novo

-

-

Yuen2017 G

KCNB2

1-0299-003

chr8:
73763368-73763368

A

ACGTC

intronic

De novo

-

-

Yuen2017 G

KCNB2

AU018010

chr8:
73898021-73898021

G

A

intergenic

De novo

-

-

Yuen2017 G

KCNB2

5-0129-003

chr8:
73763368-73763368

A

ACGTC

intronic

De novo

-

-

Yuen2017 G

KCNB2

2-0012-004

chr8:
73544186-73544186

A

C

intronic

De novo

-

-

Yuen2017 G

KCNB2

1-0433-003

chr8:
73613329-73613329

C

A

intronic

De novo

-

-

Yuen2017 G

KCNB2

2-0012-004

chr8:
73543075-73543076

AC

A

intronic

De novo

-

-

Yuen2017 G

KCNB2

AU047704

chr8:
73527076-73527076

G

A

intronic

De novo

-

-

Yuen2017 G

KCNB2

2-1380-003

chr8:
73467349-73467349

G

A

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

KCNB2

A16

chr8:
73808714-73808714

G

T

intronic

De novo

-

-

Wu2018 G

KCNB2

AU071204

chr8:
73500684-73500684

G

A

intronic

De novo

-

-

Yuen2017 G

KCNB2

AU3051303

chr8:
73585203-73585204

CT

C

intronic

De novo

-

-

Yuen2017 G

KCNB2

14482.p1

chr8:
73675084-73675084

A

T

intronic

De novo

-

-

Turner2016 G

KCNB2

2-0215-003

chr8:
73910987-73910987

G

A

intergenic

De novo

-

-

Yuen2017 G

KCNB2

AU1635302

chr8:
73630614-73630614

G

A

intronic

De novo

-

-

Yuen2017 G

KCNB2

Cukier2014:3836

chr8:
73849256-73849256

C

T

exonic

Unknown

nonsynonymous SNV

NM_004770

c.C1666T

p.P556S

1.488

Cukier2014 E

KCNB2

2-1169-003

chr8:
73778703-73778703

A

C

intronic

De novo

-

-

Yuen2017 G

KCNB2

Cukier2014:17678

chr8:
73850175-73850175

A

G

exonic

Unknown

nonsynonymous SNV

NM_004770

c.A2585G

p.N862S

16.45

Cukier2014 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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