Variant Results

or

Results for "CAPN2"

Variant Events: 22

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

CAPN2

PN400323

chr1:
223938631-223938631

C

T

exonic

Unknown

stopgain

NM_001146068
NM_001748

c.C619T
c.C853T

p.R207X
p.R285X

38.0

-

Leblond2019 E

CAPN2

1-0757-003

chr1:
223915112-223915112

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CAPN2

PN400507

chr1:
223934845-223934845

C

T

exonic

Unknown

nonsynonymous SNV

NM_001146068
NM_001748

c.C473T
c.C707T

p.S158F
p.S236F

32.0

6.0E-4

Leblond2019 E

CAPN2

PN400506

chr1:
223934845-223934845

C

T

exonic

Unknown

nonsynonymous SNV

NM_001146068
NM_001748

c.C473T
c.C707T

p.S158F
p.S236F

32.0

6.0E-4

Leblond2019 E

CAPN2

PN400369

chr1:
223934845-223934845

C

T

exonic

Unknown

nonsynonymous SNV

NM_001146068
NM_001748

c.C473T
c.C707T

p.S158F
p.S236F

32.0

6.0E-4

Leblond2019 E

CAPN2

PN400539

chr1:
223934845-223934845

C

T

exonic

Unknown

nonsynonymous SNV

NM_001146068
NM_001748

c.C473T
c.C707T

p.S158F
p.S236F

32.0

6.0E-4

Leblond2019 E

CAPN2

AU072505

chr1:
223946308-223946308

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CAPN2

PN400190

chr1:
223934845-223934845

C

T

exonic

Unknown

nonsynonymous SNV

NM_001146068
NM_001748

c.C473T
c.C707T

p.S158F
p.S236F

32.0

6.0E-4

Leblond2019 E

CAPN2

PN400348

chr1:
223934845-223934845

C

T

exonic

Unknown

nonsynonymous SNV

NM_001146068
NM_001748

c.C473T
c.C707T

p.S158F
p.S236F

32.0

6.0E-4

Leblond2019 E

CAPN2

PN400521

chr1:
223934845-223934845

C

T

exonic

Unknown

nonsynonymous SNV

NM_001146068
NM_001748

c.C473T
c.C707T

p.S158F
p.S236F

32.0

6.0E-4

Leblond2019 E

CAPN2

PN400113

chr1:
223934845-223934845

C

T

exonic

Unknown

nonsynonymous SNV

NM_001146068
NM_001748

c.C473T
c.C707T

p.S158F
p.S236F

32.0

6.0E-4

Leblond2019 E

CAPN2

PN400538

chr1:
223934845-223934845

C

T

exonic

Unknown

nonsynonymous SNV

NM_001146068
NM_001748

c.C473T
c.C707T

p.S158F
p.S236F

32.0

6.0E-4

Leblond2019 E

CAPN2

13486.p1

chr1:
223895759-223895761

GTC

TTT

intronic

De novo

-

Wilfert2021 G

CAPN2

MSSNG00039-004

chr1:
223923877-223923877

T

G

intronic

De novo

-

Trost2022 G

CAPN2

PN400332

chr1:
223934845-223934845

C

T

exonic

Unknown

nonsynonymous SNV

NM_001146068
NM_001748

c.C473T
c.C707T

p.S158F
p.S236F

32.0

6.0E-4

Leblond2019 E

CAPN2

4-0062-003

chr1:
223920166-223920167

AT

CC

intronic

De novo

-

Trost2022 G

CAPN2

SP0036103

chr1:
223962513-223962513

C

CT

intronic

De novo

-

0.003

Trost2022 G

CAPN2

SJD_49.4

chr1:
223944587-223944587

G

A

intronic

De novo

-

Trost2022 G

CAPN2

14603.p1

chr1:
223938688-223938688

C

G

intronic

Mosaic

-

Dou2017 E

CAPN2

REACH000182

chr1:
223902345-223902345

G

A

intronic

De novo

-

Trost2022 G

CAPN2

PN400505

chr1:
223934845-223934845

C

T

exonic

Unknown

nonsynonymous SNV

NM_001146068
NM_001748

c.C473T
c.C707T

p.S158F
p.S236F

32.0

6.0E-4

Leblond2019 E

CAPN2

1-1005-005A

chr1:
223897977-223897977

A

G

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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