Variant Results

or

Results for "CADM2"

Variant Events: 93

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

CADM2

2-1734-003

chr3:
86294829-86294829

T

C

intergenic

De novo

-

Yuen2017 G

CADM2

SP0001111

chr3:
86115818-86115818

C

A

exonic

De novo

nonsynonymous SNV

NM_001167674
NM_001167675
NM_001256503
NM_001256505
NM_153184
NM_001256502
NM_001256504

c.C1193A
c.C1100A
c.C869A
c.C749A
c.C1199A
c.C869A
c.C749A

p.T398K
p.T367K
p.T290K
p.T250K
p.T400K
p.T290K
p.T250K

21.0

-

Feliciano2019 E

CADM2

AU3905302

chr3:
86238127-86238127

C

A

intergenic

De novo

-

Yuen2017 G

CADM2

1-0218-003

chr3:
85576862-85576862

A

G

intronic

De novo

-

Yuen2017 G

CADM2

1-0045-003

chr3:
86600746-86600746

C

T

intergenic

De novo

-

Yuen2017 G

CADM2

AU018010

chr3:
86905862-86905862

C

G

intergenic

De novo

-

Yuen2017 G

CADM2

1-0352-005

chr3:
86363801-86363801

A

G

intergenic

De novo

-

Yuen2017 G

CADM2

AU4246304

chr3:
85551526-85551526

G

A

intronic

De novo

-

Yuen2017 G

CADM2

14482.p1

chr3:
86117978-86117978

C

T

UTR3

De novo

-

Turner2016 G

CADM2

1-0041-003

chr3:
86723624-86723624

T

C

intergenic

De novo

-

Yuen2017 G

CADM2

11002.p1

chr3:
85338945-85338945

A

G

intronic

De novo

-

Turner2016 G

CADM2

AU1668302

chr3:
86670113-86670113

G

A

intergenic

De novo

-

Yuen2017 G

CADM2

14590.p1

chr3:
85628149-85628149

G

A

intronic

De novo

-

Turner2016 G

CADM2

AU1542303

chr3:
86861636-86861636

G

A

intergenic

De novo

-

Yuen2017 G

CADM2

AU3912301

chr3:
86249155-86249155

C

A

intergenic

De novo

-

Yuen2017 G

CADM2

1-0104-003

chr3:
85269171-85269171

G

GTGTATTTGT

intronic

De novo

-

Yuen2017 G

CADM2

AU1687302

chr3:
86721880-86721880

T

A

intergenic

De novo

-

Yuen2017 G

CADM2

1-0079-003

chr3:
86496311-86496311

C

T

intergenic

De novo

-

Yuen2017 G

CADM2

1-0563-004

chr3:
85781294-85781294

C

T

intronic

De novo

-

Yuen2017 G

CADM2

7-0002-003

chr3:
86128508-86128508

C

T

intergenic

De novo

-

Yuen2017 G

CADM2

AU031204

chr3:
85165111-85165111

T

C

intronic

De novo

-

Yuen2017 G

CADM2

A16

chr3:
85927127-85927127

A

G

intronic

De novo

-

Wu2018 G

CADM2

5-0017-003

chr3:
86460379-86460383

ATTGT

A

intergenic

De novo

-

Yuen2017 G

CADM2

2-1089-003

chr3:
86705066-86705066

G

A

intergenic

De novo

-

Yuen2017 G

CADM2

AU065304

chr3:
85356916-85356916

A

G

intronic

De novo

-

Yuen2017 G

CADM2

7-0171-003

chr3:
85568481-85568481

C

T

intronic

De novo

-

Yuen2017 G

CADM2

1-0402-003

chr3:
86767825-86767825

T

C

intergenic

De novo

-

Yuen2017 G

CADM2

5-0131-003

chr3:
85878437-85878437

C

T

intronic

De novo

-

Yuen2017 G

CADM2

2-1408-004

chr3:
86458826-86458826

A

G

intergenic

De novo

-

Yuen2017 G

CADM2

AU038204

chr3:
86979541-86979544

GTCT

GTCTCT

intergenic

De novo

-

Yuen2017 G

CADM2

AU4067303

chr3:
86177371-86177372

TA

TAA

intergenic

De novo

-

Yuen2017 G

CADM2

1-0080-003

chr3:
86576650-86576650

T

C

intergenic

De novo

-

Yuen2017 G

CADM2

2-1430-003

chr3:
86139681-86139681

C

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CADM2

2-0149-005

chr3:
85950687-85950687

G

A

intronic

De novo

-

Yuen2017 G

CADM2

2-1501-003

chr3:
85983934-85983934

A

G

intronic

De novo

-

Yuen2017 G

CADM2

2-1562-004

chr3:
85082013-85082013

A

G

intronic

De novo

-

Yuen2017 G

CADM2

2-0319-004

chr3:
86572381-86572381

T

C

intergenic

De novo

-

Yuen2017 G

CADM2

3-0080-000

chr3:
86203147-86203147

C

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CADM2

EGAN00001101164

chr3:
86115865-86115865

G

A

exonic

De novo

nonsynonymous SNV

NM_001167674
NM_001167675
NM_001256503
NM_001256505
NM_153184
NM_001256502
NM_001256504

c.G1240A
c.G1147A
c.G916A
c.G796A
c.G1246A
c.G916A
c.G796A

p.D414N
p.D383N
p.D306N
p.D266N
p.D416N
p.D306N
p.D266N

23.8

-

Satterstrom2020 E

CADM2

5-0061-003

chr3:
86286745-86286745

C

T

intergenic

De novo

-

Yuen2017 G

CADM2

2-1629-003

chr3:
86436992-86436992

C

T

intergenic

De novo

-

Yuen2017 G

CADM2

AU058105

chr3:
86080555-86080555

T

G

intronic

De novo

-

Yuen2017 G

CADM2

1-0279-004

chr3:
86954565-86954565

A

G

intergenic

De novo

-

Yuen2017 G

CADM2

1-0701-003

chr3:
86586965-86586965

A

G

intergenic

De novo

-

Yuen2017 G

CADM2

AU4033304

chr3:
85992806-85992806

A

G

intronic

De novo

-

Yuen2017 G

CADM2

1-0161-004

chr3:
86549948-86549948

T

C

intergenic

De novo

-

Yuen2017 G

CADM2

1-0294-003

chr3:
86357250-86357250

T

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CADM2

AU4315302

chr3:
86637707-86637707

G

T

intergenic

De novo

-

Yuen2017 G

CADM2

2-1093-003

chr3:
86267892-86267892

G

A

intergenic

De novo

-

Yuen2017 G

CADM2

12445.p1

chr3:
85258815-85258815

T

TA

intronic

De novo

-

Werling2018 G

CADM2

7-0055-003

chr3:
85764258-85764259

AC

A

intronic

De novo

-

Yuen2017 G

CADM2

1-0514-003

chr3:
85205301-85205301

C

G

intronic

De novo

-

Yuen2017 G

CADM2

3-0065-000

chr3:
86054427-86054427

C

T

intronic

De novo

-

Yuen2017 G

CADM2

AU3787303

chr3:
86890883-86890883

G

A

intergenic

De novo

-

Yuen2017 G

CADM2

1-0715-003

chr3:
86722891-86722891

A

T

intergenic

De novo

-

Yuen2017 G

CADM2

2-1245-003

chr3:
85980615-85980615

T

C

intronic

De novo

-

Yuen2017 G

CADM2

AU3051303

chr3:
86872109-86872109

A

T

intergenic

De novo

-

Yuen2017 G

CADM2

AU4378301

chr3:
85325784-85325784

G

A

intronic

De novo

-

Yuen2017 G

CADM2

AU3692301

chr3:
85519144-85519144

C

T

intronic

De novo

-

Yuen2017 G

CADM2

2-0323-003

chr3:
86301444-86301444

G

T

intergenic

De novo

-

Yuen2017 G

CADM2

2-1215-003

chr3:
86616137-86616137

A

G

intergenic

De novo

-

Yuen2017 G

CADM2

2-1325-003

chr3:
85423894-85423894

A

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CADM2

1-0565-003

chr3:
85485964-85485964

C

T

intronic

De novo

-

Yuen2017 G

CADM2

2-0242-003

chr3:
85901340-85901340

T

C

intronic

De novo

-

Yuen2017 G

CADM2

2-1215-003

chr3:
86160457-86160475

CTGTTCTCCTGGTAGTGAA

C

intergenic

De novo

-

Yuen2017 G

CADM2

2-1357-003

chr3:
86617036-86617036

C

T

intergenic

De novo

-

Yuen2017 G

CADM2

1-0652-003

chr3:
85413212-85413212

T

C

intronic

De novo

-

Yuen2017 G

CADM2

AU073003

chr3:
85580258-85580258

C

T

intronic

De novo

-

Yuen2017 G

CADM2

AU1687303

chr3:
86721880-86721880

T

A

intergenic

De novo

-

Yuen2017 G

CADM2

1-0007-003

chr3:
85019082-85019082

G

A

intronic

De novo

-

Yuen2017 G

CADM2

AU3052302

chr3:
85726583-85726583

A

T

intronic

De novo

-

Yuen2017 G

CADM2

AU2756306

chr3:
86240309-86240309

A

G

intergenic

De novo

-

Yuen2017 G

CADM2

1-0253-004

chr3:
86138045-86138045

G

A

intergenic

De novo

-

Yuen2017 G

CADM2

5-0123-003

chr3:
86688072-86688072

G

A

intergenic

De novo

-

Yuen2017 G

CADM2

1-0197-003

chr3:
85482625-85482625

G

A

intronic

De novo

-

Yuen2017 G

CADM2

1-0593-003

chr3:
85260323-85260340

TTCTCTCTCTCTCTCTCT

TTCTCTCTCTCTCTCT

intronic

De novo

-

Yuen2017 G

CADM2

1-0567-004

chr3:
86268210-86268210

G

C

intergenic

De novo

-

Yuen2017 G

CADM2

2-1129-003

chr3:
85460379-85460379

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CADM2

1-0552-003

chr3:
86943179-86943185

GCTGTCT

GCT

intergenic

De novo

-

Yuen2017 G

CADM2

1-0352-003

chr3:
86363801-86363801

A

G

intergenic

De novo

-

Yuen2016 G

CADM2

AU050704

chr3:
85052848-85052848

G

A

intronic

De novo

-

Yuen2017 G

CADM2

2-1391-004

chr3:
86570713-86570716

CAGG

C

intergenic

De novo

-

Yuen2017 G

CADM2

A1

chr3:
86279343-86279343

G

A

intergenic

De novo

-

Wu2018 G

CADM2

AU061003

chr3:
85348332-85348332

C

A

intronic

De novo

-

Yuen2017 G

CADM2

AU065807

chr3:
85372030-85372030

G

A

intronic

De novo

-

Yuen2017 G

CADM2

2-0264-004

chr3:
86916804-86916804

T

C

intergenic

De novo

-

Yuen2017 G

CADM2

2-1230-003

chr3:
85562964-85562964

A

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CADM2

AU4188302

chr3:
85894740-85894740

C

G

intronic

De novo

-

Yuen2017 G

CADM2

2-1480-003

chr3:
86244088-86244088

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CADM2

AU028305

chr3:
86799848-86799848

C

A

intergenic

De novo

-

Yuen2017 G

CADM2

AU047904

chr3:
86562694-86562694

A

G

intergenic

De novo

-

Yuen2017 G

CADM2

AU3857301

chr3:
85127774-85127774

A

G

intronic

De novo

-

Yuen2017 G

CADM2

2-1264-003

chr3:
86180387-86180387

G

C

intergenic

De novo

-

Yuen2017 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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