Variant Results

or

Results for "CAMTA1"

Variant Events: 55

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

CAMTA1

2-1250-003

chr1:
6937694-6937695

CT

C

intronic

De novo

-

Yuen2017 G

CAMTA1

2-1196-003

chr1:
7431737-7431737

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CAMTA1

2-0088-003

chr1:
7691859-7691859

A

G

intronic

De novo

-

Yuen2017 G

CAMTA1

2-1184-003

chr1:
7143510-7143510

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CAMTA1

3-0438-000

chr1:
7529260-7529260

C

T

intronic

De novo

-

Yuen2016 G

CAMTA1

7-0248-003

chr1:
7788523-7788523

G

A

intronic

De novo

-

Yuen2017 G

CAMTA1

1-0385-003

chr1:
6991691-6991691

G

A

intronic

De novo

-

Yuen2017 G

CAMTA1

1-0385-003

chr1:
6981883-6981883

G

A

intronic

De novo

-

Yuen2017 G

CAMTA1

1-0203-004

chr1:
7044239-7044239

G

GATGA

intronic

De novo

-

Yuen2017 G

CAMTA1

1-0206-005

chr1:
7044243-7044243

A

ATGT

intronic

De novo

-

Yuen2017 G

CAMTA1

A16

chr1:
6908620-6908620

A

G

intronic

De novo

-

Wu2018 G

CAMTA1

AU1909304

chr1:
7151959-7151959

C

T

intronic

De novo

-

Yuen2017 G

CAMTA1

3-0209-000

chr1:
6902089-6902089

C

T

intronic

De novo

-

Yuen2017 G

CAMTA1

2-0045-003

chr1:
7205006-7205006

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CAMTA1

2-1381-003

chr1:
7112701-7112701

G

A

intronic

De novo

-

Yuen2017 G

CAMTA1

2-1268-003

chr1:
7715172-7715172

A

G

intronic

De novo

-

Yuen2017 G

CAMTA1

2-1454-003

chr1:
6857310-6857310

G

A

intronic

De novo

-

Yuen2017 G

CAMTA1

2-1429-003

chr1:
6946131-6946131

G

GTGCT

intronic

De novo

-

Yuen2017 G

CAMTA1

AU2793303

chr1:
7645350-7645350

G

A

intronic

De novo

-

Yuen2017 G

CAMTA1

AU017304

chr1:
7455151-7455151

C

T

intronic

De novo

-

Yuen2017 G

CAMTA1

1-0269-005

chr1:
7483358-7483358

G

A

intronic

De novo

-

Yuen2017 G

CAMTA1

2-1529-003

chr1:
7089656-7089675

ATCTCTCTCTCTCTCTCTCT

ATCTCTCTCTCTCTCTCT

intronic

De novo

-

Yuen2017 G

CAMTA1

1-0554-003

chr1:
6940217-6940217

G

A

intronic

De novo

-

Yuen2017 G

CAMTA1

1-0393-003

chr1:
6924385-6924385

C

T

intronic

De novo

-

Yuen2017 G

CAMTA1

2-1408-003

chr1:
7284033-7284033

G

A

intronic

De novo

-

Yuen2017 G

CAMTA1

2-1359-004

chr1:
7103271-7103271

T

C

intronic

De novo

-

Yuen2017 G

CAMTA1

20-0720301-18

chr1:
7796454-7796454

C

T

exonic

De novo

synonymous SNV

NM_015215

c.C3117T

p.V1039V

-

Fu2022 E
Satterstrom2020 E

CAMTA1

1-0466-003

chr1:
7345568-7345568

C

A

intronic

De novo

-

Yuen2017 G

CAMTA1

AU056804

chr1:
7036186-7036186

A

G

intronic

De novo

-

Yuen2017 G

CAMTA1

AU066104

chr1:
7758922-7758922

T

A

intronic

De novo

-

Yuen2017 G

CAMTA1

1-0627-005

chr1:
7686336-7686336

C

T

intronic

De novo

-

Yuen2017 G

CAMTA1

AU011604

chr1:
7652044-7652044

C

T

intronic

De novo

-

Yuen2017 G

CAMTA1

AU3955303

chr1:
6875667-6875667

T

G

intronic

De novo

-

Yuen2017 G

CAMTA1

2-1497-003

chr1:
6994687-6994687

C

T

intronic

De novo

-

Yuen2017 G

CAMTA1

2-1508-003

chr1:
7444951-7444951

G

A

intronic

De novo

-

Yuen2017 G

CAMTA1

1-1000-003

chr1:
7344542-7344542

G

A

intronic

De novo

-

Yuen2017 G

CAMTA1

2-1718-003

chr1:
7492809-7492809

C

T

intronic

De novo

-

Yuen2017 G

CAMTA1

1-0375-003

chr1:
7500107-7500107

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CAMTA1

SP0136585

chr1:
7792554-7792554

G

T

exonic

De novo

nonsynonymous SNV

NM_015215

c.G2961T

p.E987D

20.3

-

Fu2022 E

CAMTA1

AU4159302

chr1:
6995562-6995562

A

G

intronic

De novo

-

Yuen2017 G

CAMTA1

1-0019-004

chr1:
7730010-7730010

C

T

intronic

De novo

-

Yuen2017 G

CAMTA1

AU047904

chr1:
7768260-7768260

G

A

intronic

De novo

-

Yuen2017 G

CAMTA1

AU4176302

chr1:
7712904-7712904

G

A

intronic

De novo

-

Yuen2017 G

CAMTA1

1-0184-003

chr1:
7209889-7209889

C

T

intronic

De novo

-

Yuen2017 G

CAMTA1

2-0219-004

chr1:
6936741-6936741

T

C

intronic

De novo

-

Yuen2017 G

CAMTA1

2-1164-003

chr1:
7826653-7826666

GCACACACACACAC

GCACACACACAC

UTR3

De novo

-

Yuen2017 G

CAMTA1

SP0144774

chr1:
7724435-7724435

C

T

exonic

De novo

stopgain

NM_015215

c.C1828T

p.Q610X

39.0

-

Antaki2022 GE
Fu2022 E

CAMTA1

2-1591-003

chr1:
7615651-7615651

G

A

intronic

De novo

-

Yuen2017 G

CAMTA1

AU027506

chr1:
7506858-7506858

G

A

intronic

De novo

-

Yuen2017 G

CAMTA1

1442-22354

chr1:
7796467-7796467

A

G

exonic

Inherited

nonsynonymous SNV

NM_015215

c.A3130G

p.K1044E

19.0

-

Callaghan2019 G

CAMTA1

2-1434-003

chr1:
7392954-7392954

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CAMTA1

2-1235-003

chr1:
6862058-6862058

A

G

intronic

De novo

-

Yuen2017 G

CAMTA1

1-0627-007

chr1:
7203432-7203432

G

A

intronic

De novo

-

Yuen2017 G

CAMTA1

AU4235302

chr1:
7719941-7719941

G

A

intronic

De novo

-

Yuen2017 G

CAMTA1

3-0396-000

chr1:
7535886-7535886

T

C

intronic

De novo

-

Yuen2016 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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