Variant Results

or

or

Results for "KCNB1"

Variant Events: 17

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

KCNB1

AU2029303

chr20:
48042875-48042875

G

A

intronic

De novo

-

-

Yuen2017 G

KCNB1

F2685-1

chr20:
47991181-47991181

G

A

exonic

De novo

nonsynonymous SNV

NM_004975

c.C916T

p.R306C

17.67

-

Montenegro2019 E

KCNB1

60-2027

chr20:
48084667-48084667

A

G

intronic

De novo

-

-

Michaelson2012 G

KCNB1

REACH000747

chr20:
47991163-47991163

G

A

exonic

nonsynonymous SNV

NM_004975

c.C934T

p.R312C

16.89

-

Antaki2022 GE

KCNB1

AU0249-0202

chr20:
47991056-47991056

G

T

exonic

De novo

nonsynonymous SNV

NM_004975

c.C1041A

p.S347R

15.0

-

Fu2022 E

KCNB1

SP0096276

chr20:
47990800-47990800

G

A

exonic

De novo

stopgain

NM_004975

c.C1297T

p.R433X

26.5

-

Antaki2022 GE
Fu2022 E

KCNB1

552-06-107496

chr20:
47991162-47991162

C

T

exonic

De novo

nonsynonymous SNV

NM_004975

c.G935A

p.R312H

23.2

-

Fu2022 E
Satterstrom2020 E

KCNB1

AU1848302

chr20:
47991014-47991014

G

C

exonic

De novo

nonsynonymous SNV

NM_004975

c.C1083G

p.F361L

14.94

-

Yuen2017 G

KCNB1

AU2029302

chr20:
48042875-48042875

G

A

intronic

De novo

-

-

Yuen2017 G

KCNB1

AU3398301

chr20:
48000975-48000975

C

T

intronic

De novo

-

-

Yuen2017 G

KCNB1

AU3398301

chr20:
48001048-48001048

T

C

intronic

De novo

-

-

Yuen2017 G

KCNB1

AU047904

chr20:
47998806-47998806

G

A

intronic

De novo

-

-

Yuen2017 G

KCNB1

AU3398301

chr20:
47993889-47993889

C

G

intronic

De novo

-

-

Yuen2017 G

KCNB1

Cukier2014:7503

chr20:
47989527-47989527

C

T

exonic

Unknown

nonsynonymous SNV

NM_004975

c.G2570A

p.S857N

12.64

Cukier2014 E

KCNB1

G01-GEA-166-HI

chr20:
47991500-47991500

G

C

exonic

De novo

nonsynonymous SNV

NM_004975

c.C597G

p.I199M

14.05

-

Fu2022 E
Satterstrom2020 E

KCNB1

AU2000305

chr20:
48091327-48091327

T

A

intronic

De novo

-

-

Yuen2017 G

KCNB1

Mahjani2021:71

chr20:
47991117-47991117

C

G

exonic

nonsynonymous SNV

NM_004975

c.G980C

p.S327T

19.55

-

Mahjani2021 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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