Variant Results

or

or

Results for "CAMSAP1"

Variant Events: 21

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

CAMSAP1

12778.p1

chr9:
138774816-138774816

C

T

exonic

De novo

nonsynonymous SNV

NM_015447

c.G269A

p.R90H

28.3

-

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

CAMSAP1

MSSNG00043-003

chr9:
138786264-138786264

T

A

intronic

De novo

-

-

Trost2022 G

CAMSAP1

SP0069558

chr9:
138703415-138703415

G

A

exonic

De novo

nonsynonymous SNV

NM_015447

c.C4549T

p.R1517C

20.7

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

CAMSAP1

1-0323-003

chr9:
138823077-138823077

C

T

intergenic

De novo

-

-

Yuen2017 G

CAMSAP1

11363.p1

chr9:
138713882-138713882

T

C

exonic

De novo

synonymous SNV

NM_015447

c.A2625G

p.A875A

-

Krumm2015 E
Zhou2022 GE

CAMSAP1

2-1206-003

chr9:
138718663-138718663

C

T

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

CAMSAP1

11224.p1

chr9:
138758402-138758402

C

T

intronic

De novo

-

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

CAMSAP1

SP0124014

chr9:
138742009-138742009

G

A

exonic

De novo

nonsynonymous SNV

NM_015447

c.C1019T

p.P340L

33.0

-

Fu2022 E
Trost2022 G
Zhou2022 GE

CAMSAP1

1-0972-003

chr9:
138705328-138705328

G

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CAMSAP1

7-0273-003

chr9:
138746274-138746274

A

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CAMSAP1

2-0057-003

chr9:
138813127-138813129

CCT

C

intergenic

De novo

-

-

Yuen2017 G

CAMSAP1

MSSNG00435-003

chr9:
138764432-138764432

C

G

intronic

De novo

-

-

Trost2022 G

CAMSAP1

ASDFI_1685

chr9:
138715142-138715142

G

A

intronic

De novo

-

-

Satterstrom2020 E
Trost2022 G

CAMSAP1

MSSNG00245-003

chr9:
138785840-138785840

C

T

intronic

De novo

-

-

Trost2022 G

CAMSAP1

MSSNG00335-003

chr9:
138750198-138750199

CT

C

intronic

De novo

-

-

Trost2022 G

CAMSAP1

5335

chr9:
138758402-138758402

C

T

intronic

De novo

-

-

Trost2022 G

CAMSAP1

AU4410302

chr9:
138817445-138817445

G

A

intergenic

De novo

-

-

Yuen2017 G

CAMSAP1

SSC02500

chr9:
138713882-138713882

T

C

exonic

De novo

synonymous SNV

NM_015447

c.A2625G

p.A875A

-

Lim2017 E

CAMSAP1

SP0052047

chr9:
138728470-138728472

CCT

C

intronic

De novo

-

-

Trost2022 G

CAMSAP1

SSC05849

chr9:
138774816-138774816

C

T

exonic

De novo

nonsynonymous SNV

NM_015447

c.G269A

p.R90H

28.3

-

Fu2022 E
Trost2022 G

CAMSAP1

MSSNG00159-003

chr9:
138736210-138736210

C

T

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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