Variant Results

or

Results for "KCND2"

Variant Events: 67

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

KCND2

2-0297-004

chr7:
120016219-120016219

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

KCND2

5-5162-003

chr7:
119915701-119915701

G

A

exonic

De novo

nonsynonymous SNV

NM_012281

c.G1015A

p.A339T

24.6

-

Trost2022 G
Zhou2022 GE

KCND2

AU011903

chr7:
120363419-120363419

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

KCND2

AU3857301

chr7:
119973245-119973245

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

KCND2

2-1242-003

chr7:
120290624-120290624

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

KCND2

1-0265-004

chr7:
120178489-120178489

C

T

intronic

De novo

-

Yuen2017 G

KCND2

1-0265-003

chr7:
120178489-120178489

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

KCND2

EGAN00001100988

chr7:
119915017-119915017

T

TAA

exonic

De novo

stopgain

NM_012281

c.331_332insAA

p.C111_I112delinsX

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

KCND2

AU3728301

chr7:
120321811-120321811

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

KCND2

AU4392302

chr7:
120131181-120131181

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

KCND2

1-0181-004

chr7:
120008781-120008781

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

KCND2

7-0191-003

chr7:
120314501-120314501

A

ATGAATTAAATAATGTAAAT

intronic

De novo

-

Trost2022 G
Yuen2017 G

KCND2

1-0400-003

chr7:
120237813-120237813

C

G

intronic

De novo

-

Yuen2017 G

KCND2

AU4487302

chr7:
120367697-120367697

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

KCND2

1-0923-003

chr7:
120305215-120305215

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

KCND2

1-0469-003

chr7:
120226065-120226065

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

KCND2

AU1698301

chr7:
120183624-120183624

T

C

intronic

De novo

-

Yuen2017 G

KCND2

1-1169-003

chr7:
119914382-119914382

T

G

UTR5

De novo

-

Trost2022 G

KCND2

MSSNG00421-006

chr7:
119977013-119977013

C

T

intronic

De novo

-

Trost2022 G

KCND2

AU3761302

chr7:
120223436-120223436

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

KCND2

7-0351-003

chr7:
120174282-120174282

A

G

intronic

De novo

-

Trost2022 G

KCND2

2-1066-003

chr7:
120034470-120034470

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

KCND2

MT_75.3

chr7:
120176820-120176820

G

A

intronic

De novo

-

Trost2022 G

KCND2

AU1987301

chr7:
120175947-120175947

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

KCND2

REACH000718

chr7:
120114124-120114124

C

T

intronic

De novo

-

Trost2022 G

KCND2

MSSNG00422-004

chr7:
120143541-120143541

A

G

intronic

De novo

-

Trost2022 G

KCND2

AU2320301

chr7:
120085690-120085690

A

G

intronic

De novo

-

Trost2022 G

KCND2

3-0391-000

chr7:
119952252-119952252

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

KCND2

3-0336-000

chr7:
120103412-120103412

A

G

intronic

De novo

-

Trost2022 G

KCND2

1-0187-004

chr7:
120014344-120014344

C

T

intronic

De novo

-

Trost2022 G

KCND2

MSSNG00360-004

chr7:
120077945-120077945

C

T

intronic

De novo

-

Trost2022 G

KCND2

REACH000159

chr7:
120281829-120281829

A

T

intronic

De novo

-

Trost2022 G

KCND2

MSSNG00073-003

chr7:
120300761-120300761

T

C

intronic

De novo

-

Trost2022 G

KCND2

AU4392301

chr7:
120131181-120131181

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

KCND2

AU4479301

chr7:
120389511-120389511

A

C

UTR3

De novo

-

Trost2022 G
Yuen2017 G

KCND2

1-0722-003

chr7:
120242363-120242365

CCT

C

intronic

De novo

-

Trost2022 G

KCND2

Lee2014:1

chr7:
120373051-120373051

G

A

exonic

De novo

nonsynonymous SNV

NM_012281

c.G1210A

p.V404M

28.2

-

Lee2014 E

KCND2

AU2639301

chr7:
120280181-120280181

G

A

intronic

De novo

-

Trost2022 G

KCND2

13543.p1

chr7:
120157924-120157924

A

G

intronic

De novo

-

Turner2016 G

KCND2

MSSNG00095-003

chr7:
120214640-120214640

C

T

intronic

De novo

-

Trost2022 G

KCND2

13324.p1

chr7:
120230325-120230325

G

A

intronic

De novo

-

Turner2016 G

KCND2

Lee2014:2

chr7:
120373051-120373051

G

A

exonic

De novo

nonsynonymous SNV

NM_012281

c.G1210A

p.V404M

28.2

-

Lee2014 E

KCND2

AU031003

chr7:
120235549-120235549

A

ATG

intronic

De novo

-

Trost2022 G

KCND2

1-0299-003

chr7:
120227914-120227914

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

KCND2

AU055603

chr7:
120183460-120183461

CA

C

intronic

De novo

-

Trost2022 G

KCND2

12449.p1

chr7:
120011185-120011185

A

G

intronic

De novo

-

Turner2016 G

KCND2

2-1442-003

chr7:
119914135-119914135

G

T

UTR5

De novo

-

Yuen2017 G

KCND2

MSSNG00109-004

chr7:
120212116-120212116

G

A

intronic

De novo

-

Trost2022 G

KCND2

3-0278-000

chr7:
120371831-120371831

A

G

intronic

De novo

-

Trost2022 G

KCND2

AU054303

chr7:
120131632-120131632

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

KCND2

SJD_59.3

chr7:
120375007-120375007

G

A

intronic

De novo

-

Trost2022 G

KCND2

7-0462-003

chr7:
120355377-120355377

C

T

intronic

De novo

-

Trost2022 G

KCND2

2-1239-003

chr7:
120371705-120371705

A

G

intronic

De novo

-

Yuen2017 G

KCND2

MSSNG00196-003

chr7:
120365151-120365151

G

T

intronic

De novo

-

Trost2022 G

KCND2

3-0728-000

chr7:
120332653-120332654

GC

G

intronic

De novo

-

Trost2022 G

KCND2

1-0568-003

chr7:
120333813-120333816

GGCA

AGT

intronic

De novo

-

Trost2022 G

KCND2

10-1019-003

chr7:
120314501-120314501

A

ATGAATTAAATAATGTAAAT

intronic

De novo

-

Trost2022 G

KCND2

SJD_15.3

chr7:
120331097-120331097

G

A

intronic

De novo

-

Trost2022 G

KCND2

2-1186-003

chr7:
120027473-120027473

A

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

KCND2

2-1592-003

chr7:
120209941-120209941

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

KCND2

2-1266-003

chr7:
119973863-119973863

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

KCND2

AU030103

chr7:
120221997-120221997

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

KCND2

1-1128-003

chr7:
120385126-120385126

C

T

intronic

De novo

-

Trost2022 G

KCND2

5-0512-005

chr7:
120377378-120377378

A

AT

intronic

De novo

-

Trost2022 G

KCND2

3-0777-000

chr7:
120382766-120382766

A

G

intronic

De novo

-

Trost2022 G

KCND2

7-0127-003

chr7:
120256276-120256276

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

KCND2

A15

chr7:
120114226-120114227

GC

G

intronic

De novo

-

Wu2018 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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