Variant Results

or

Results for "CAMK2B"

Variant Events: 37

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

CAMK2B

1-0763-003

chr7:
44368303-44368303

G

GGTA

intergenic

De novo

-

Yuen2017 G

CAMK2B

2-0272-003

chr7:
44294291-44294291

T

C

intronic

De novo

-

Yuen2017 G

CAMK2B

2-1382-003

chr7:
44298128-44298128

C

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

CAMK2B

1-0541-003

chr7:
44368286-44368286

A

ATGCTGG

intergenic

De novo

-

Yuen2017 G

CAMK2B

SP0093105

chr7:
44274315-44274315

C

T

intronic

De novo

-

1.698E-5

Fu2022 E
Trost2022 G

CAMK2B

2-1170-003

chr7:
44294312-44294312

C

CCACCACCACCACCACCA

intronic

De novo

-

Yuen2017 G

CAMK2B

Krgovic2022:035442

chr7:
44294154-44294154

C

T

exonic

Unknown

nonsynonymous SNV

NM_001220
NM_001293170
NM_172078
NM_172079
NM_172080
NM_172081
NM_172082
NM_172083
NM_172084

c.G328A
c.G328A
c.G328A
c.G328A
c.G328A
c.G328A
c.G328A
c.G328A
c.G328A

p.E110K
p.E110K
p.E110K
p.E110K
p.E110K
p.E110K
p.E110K
p.E110K
p.E110K

26.3

-

Krgovic2022 E

CAMK2B

Miyake2023:8553

chr7:
44259671-44259671

G

A

exonic

De novo

nonsynonymous SNV

NM_172084
NM_172083
NM_172081
NM_172079
NM_172080
NM_172082
NM_001293170
NM_172078
NM_001220

c.C1340T
c.C1430T
c.C1502T
c.C1547T
c.C1544T
c.C1469T
c.C1619T
c.C1619T
c.C1991T

p.P447L
p.P477L
p.P501L
p.P516L
p.P515L
p.P490L
p.P540L
p.P540L
p.P664L

29.6

-

Miyake2023 E

CAMK2B

2-0208-003

chr7:
44368286-44368286

A

ATAGTGT

intergenic

De novo

-

Yuen2017 G

CAMK2B

1-0435-003

chr7:
44360225-44360225

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CAMK2B

SP0144117

chr7:
44282824-44282824

C

T

intronic

De novo

-

Fu2022 E

CAMK2B

AU045514

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

CAMK2B

2-1508-004

chr7:
44294312-44294312

C

CCA

intronic

De novo

-

Yuen2017 G

CAMK2B

1-0043-003

chr7:
44294269-44294269

T

A

intronic

De novo

-

Yuen2017 G

CAMK2B

1-0104-003

chr7:
44368283-44368283

A

ATAGTGTTGGTGG

intergenic

De novo

-

Yuen2017 G

CAMK2B

SP0023236

Complex Event; expand row to view variants

De novo

nonframeshift substitution, nonsynonymous SNV

NM_001220
NM_001293170
NM_172078
NM_172079
NM_172080
NM_172081
NM_172082
NM_172083
NM_172084
NM_001220
NM_001293170
NM_172078
NM_172079
NM_172080
NM_172081
NM_172082
NM_172083
NM_172084
NM_001220
NM_001293170
NM_172078
NM_172079
NM_172080
NM_172081
NM_172082
NM_172083
NM_172084

c.C199T
c.C199T
c.C199T
c.C199T
c.C199T
c.C199T
c.C199T
c.C199T
c.C199T
c.T200A
c.T200A
c.T200A
c.T200A
c.T200A
c.T200A
c.T200A
c.T200A
c.T200A
c.199_200TA
c.199_200TA
c.199_200TA
c.199_200TA
c.199_200TA
c.199_200TA
c.199_200TA
c.199_200TA
c.199_200TA

p.L67F
p.L67F
p.L67F
p.L67F
p.L67F
p.L67F
p.L67F
p.L67F
p.L67F
p.L67H
p.L67H
p.L67H
p.L67H
p.L67H
p.L67H
p.L67H
p.L67H
p.L67H
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A

23.0

-

Antaki2022 GE
Antaki2022 GE
Fu2022 E
Trost2022 G
Trost2022 G
Zhou2022 GE

CAMK2B

JASD_Fam0070

chr7:
44259671-44259671

G

A

exonic

De novo

nonsynonymous SNV

NM_172084
NM_172083
NM_172081
NM_172079
NM_172080
NM_172082
NM_001293170
NM_172078
NM_001220

c.C1340T
c.C1430T
c.C1502T
c.C1547T
c.C1544T
c.C1469T
c.C1619T
c.C1619T
c.C1991T

p.P447L
p.P477L
p.P501L
p.P516L
p.P515L
p.P490L
p.P540L
p.P540L
p.P664L

29.6

-

Takata2018 E

CAMK2B

2-0088-003

chr7:
44368294-44368294

G

GGTGGTGGTAATGGTGGTGGTGGTAATGGTGGTGGTGGTA

intergenic

De novo

-

Yuen2017 G

CAMK2B

AU3779304

chr7:
44415521-44415521

T

C

intergenic

De novo

-

Yuen2017 G

CAMK2B

1-0508-003

chr7:
44264287-44264287

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CAMK2B

2-1169-004

chr7:
44267564-44267564

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CAMK2B

AU4154303

chr7:
44306328-44306328

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CAMK2B

PN400439

chr7:
44269056-44269056

C

T

exonic

Unknown

nonsynonymous SNV

NM_001220

c.G1270A

p.G424R

21.2

-

Leblond2019 E

CAMK2B

1-0473-003

chr7:
44368286-44368286

A

ATAATGATAATGATAGTGT

intergenic

De novo

-

Yuen2017 G

CAMK2B

REACH000639

chr7:
44295131-44295131

G

A

intronic

De novo

-

Trost2022 G

CAMK2B

7-0326-003

chr7:
44298076-44298078

CAT

C

intronic

De novo

-

Trost2022 G

CAMK2B

2-0205-003

chr7:
44288909-44288909

G

A

intronic

De novo

-

Trost2022 G

CAMK2B

1-0677-004A

chr7:
44291937-44291937

A

ACAC

intronic

De novo

-

Trost2022 G

CAMK2B

152311

chr7:
44268358-44268358

G

A

intronic

De novo

-

2.0E-4

Satterstrom2020 E
Trost2022 G

CAMK2B

1-0172-005

chr7:
44280120-44280125

GTGGTA

G

intronic

De novo

-

Trost2022 G

CAMK2B

SP0253213

chr7:
44281378-44281378

C

T

exonic

De novo

nonsynonymous SNV

NM_001220
NM_001293170
NM_172078
NM_172079
NM_172080
NM_172081
NM_172082
NM_172083
NM_172084

c.G824A
c.G824A
c.G824A
c.G824A
c.G824A
c.G824A
c.G824A
c.G824A
c.G824A

p.R275H
p.R275H
p.R275H
p.R275H
p.R275H
p.R275H
p.R275H
p.R275H
p.R275H

22.2

-

Trost2022 G

CAMK2B

AU3605304

chr7:
44255790-44255790

G

GAA

downstream

De novo

-

Trost2022 G

CAMK2B

MSSNG00396-003

chr7:
44341541-44341541

A

C

intronic

De novo

-

Trost2022 G

CAMK2B

AU3790302

chr7:
44297033-44297033

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CAMK2B

MT_14.3

chr7:
44350123-44350123

C

T

intronic

De novo

-

Trost2022 G

CAMK2B

1-1058-004

chr7:
44310475-44310475

C

T

intronic

De novo

-

Trost2022 G

CAMK2B

7-0320-003

chr7:
44316023-44316023

G

GC

intronic

De novo

-

Trost2022 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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