Variant Results

or

or

Results for "CAPRIN1"

Variant Events: 19

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

CAPRIN1

09C99835

chr11:
34107924-34107924

C

T

exonic

De novo

stopgain

NM_005898
NM_203364

c.C1195T
c.C1195T

p.Q399X
p.Q399X

37.0

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CAPRIN1

GEA481

chr11:
34097825-34097825

A

G

exonic

De novo

nonsynonymous SNV

NM_005898
NM_203364

c.A409G
c.A409G

p.M137V
p.M137V

14.47

-

Fu2022 E

CAPRIN1

Uddin2014:15

chr11:
34107924-34107924

C

T

exonic

De novo

stopgain

NM_005898
NM_203364

c.C1195T
c.C1195T

p.Q399X
p.Q399X

37.0

-

Uddin2014 E

CAPRIN1

2-1305-003

chr11:
34107924-34107924

C

T

exonic

De novo

stopgain

NM_005898
NM_203364

c.C1195T
c.C1195T

p.Q399X
p.Q399X

37.0

-

Jiang2013 G
Yuen2016 G
Yuen2017 G
Zhou2022 GE

CAPRIN1

SP0103536

chr11:
34107664-34107664

G

GC

exonic

De novo

frameshift insertion

NM_005898
NM_203364

c.1021dupC
c.1021dupC

p.E340fs
p.E340fs

-

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

CAPRIN1

iHART1192

chr11:
34097793-34097797

CAATA

C

exonic

Paternal

frameshift deletion

NM_005898
NM_203364

c.378_381del
c.378_381del

p.T126fs
p.T126fs

-

-

Ruzzo2019 G

CAPRIN1

SSC02099

chr11:
34107646-34107646

A

G

exonic

De novo

synonymous SNV

NM_005898
NM_203364

c.A1002G
c.A1002G

p.A334A
p.A334A

-

-

Fu2022 E
Lim2017 E
Trost2022 G

CAPRIN1

11520.p1

chr11:
34107646-34107646

A

G

exonic

De novo

synonymous SNV

NM_005898
NM_203364

c.A1002G
c.A1002G

p.A334A
p.A334A

-

-

Krumm2015 E
Satterstrom2020 E
Zhou2022 GE

CAPRIN1

2-1299-003

chr11:
34076181-34076181

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CAPRIN1

AU1840305

chr11:
34119293-34119293

C

T

exonic

Unknown

nonsynonymous SNV

NM_005898
NM_203364

c.C2050T
c.C2050T

p.R684W
p.R684W

17.24

-

Stessman2017 T

CAPRIN1

SP0245675

chr11:
34110920-34110920

A

G

intronic

De novo

-

-

Trost2022 G

CAPRIN1

SP0018517

chr11:
34119898-34119898

T

TA

UTR3

De novo

-

-

Trost2022 G

CAPRIN1

211-5576-3

chr11:
34107924-34107924

C

T

exonic

De novo

stopgain

NM_005898
NM_203364

c.C1195T
c.C1195T

p.Q399X
p.Q399X

37.0

-

Stessman2017 T
Stessman2017 T

CAPRIN1

3-0709-000

chr11:
34110224-34110224

G

A

intronic

De novo

-

-

Trost2022 G

CAPRIN1

2-0162-003

chr11:
34110670-34110670

T

C

intronic

De novo

-

-

Trost2022 G

CAPRIN1

2-1547-003

chr11:
34095892-34095892

C

T

intronic

De novo

-

-

Trost2022 G

CAPRIN1

5-5170-003

chr11:
34108279-34108279

G

GT

intronic

De novo

-

-

Trost2022 G

CAPRIN1

mAGRE1192

chr11:
34097793-34097797

CAATA

C

exonic

Paternal

frameshift deletion

NM_005898
NM_203364

c.378_381del
c.378_381del

p.T126fs
p.T126fs

-

-

Cirnigliaro2023 G

CAPRIN1

SP0013092

chr11:
34074085-34074085

C

T

exonic

De novo

stopgain

NM_005898
NM_203364

c.C118T
c.C118T

p.Q40X
p.Q40X

20.1

-

Fu2022 E
Trost2022 G
Zhou2022 GE

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
	More