Variant Results

or

Results for "TENM4"

Variant Events: 100

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

TENM4

AU1725306

chr11:
79904677-79904677

G

A

intergenic

De novo

-

Yuen2017 G

TENM4

AU3506303

chr11:
78379540-78379540

C

T

intronic

De novo

-

Yuen2017 G

TENM4

1-0446-003

chr11:
79689409-79689409

G

T

intergenic

De novo

-

Yuen2017 G

TENM4

AU1725306

chr11:
79632007-79632007

A

G

intergenic

De novo

-

Yuen2017 G

TENM4

2-1239-003

chr11:
78543482-78543482

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

TENM4

AU4347301

chr11:
79867695-79867695

T

G

intergenic

De novo

-

Yuen2017 G

TENM4

2-1239-003

chr11:
78658801-78658801

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

TENM4

2-1720-003

chr11:
79791669-79791669

A

T

intergenic

De novo

-

Yuen2017 G

TENM4

SP0110062

chr11:
78387424-78387424

G

T

exonic

De novo

synonymous SNV

NM_001098816

c.C5269A

p.R1757R

-

Fu2022 E

TENM4

SP0033274

chr11:
78380228-78380228

T

A

exonic

De novo

nonsynonymous SNV

NM_001098816

c.A7162T

p.I2388F

13.6

-

Fu2022 E

TENM4

SP0059470

chr11:
78574258-78574258

A

T

intronic

De novo

-

Fu2022 E

TENM4

SP0025229

chr11:
78381007-78381007

T

C

exonic

De novo

nonsynonymous SNV

NM_001098816

c.A6383G

p.Y2128C

14.98

-

Fu2022 E

TENM4

2-1702-003

chr11:
79317454-79317454

A

T

intergenic

De novo

-

Yuen2017 G

TENM4

2-0197-004

chr11:
80054822-80054822

G

T

intergenic

De novo

-

Yuen2017 G

TENM4

2-0297-004

chr11:
80115900-80115900

A

G

intergenic

De novo

-

Yuen2017 G

TENM4

1-0259-003

chr11:
79276852-79276852

C

G

intergenic

De novo

-

Yuen2017 G

TENM4

AU3648301

chr11:
79551272-79551272

A

G

intergenic

De novo

-

Yuen2017 G

TENM4

2-1365-003

Complex Event; expand row to view variants

De novo

-

Yuen2016 G
Yuen2017 G

TENM4

11322.p1

chr11:
78372516-78372516

G

A

exonic

De novo

nonsynonymous SNV

NM_001098816

c.C7529T

p.T2510M

25.6

4.507E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E

TENM4

AU4237302

chr11:
80139500-80139500

G

A

intergenic

De novo

-

Yuen2017 G

TENM4

7-0151-003

chr11:
79325578-79325578

G

A

intergenic

De novo

-

Yuen2017 G

TENM4

AU4033303

chr11:
78899248-78899248

A

G

intronic

De novo

-

Yuen2017 G

TENM4

AU3853302

chr11:
80122331-80122331

A

T

intergenic

De novo

-

Yuen2017 G

TENM4

2-1134-003

chr11:
78889732-78889732

A

G

intronic

De novo

-

Yuen2017 G

TENM4

2-1323-003

chr11:
79993454-79993454

C

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TENM4

AU3724302

chr11:
79563234-79563234

C

T

intergenic

De novo

-

Yuen2017 G

TENM4

1-0218-003

chr11:
78935886-78935886

C

T

intronic

De novo

-

Yuen2017 G

TENM4

2-1220-003

chr11:
79313295-79313295

G

A

intergenic

De novo

-

Yuen2017 G

TENM4

PN400527

chr11:
78600956-78600956

G

A

exonic

Unknown

nonsynonymous SNV

NM_001098816

c.C958T

p.R320C

22.5

-

Leblond2019 E

TENM4

AU3263301

chr11:
78885979-78885979

T

C

intronic

De novo

-

Yuen2017 G

TENM4

2-1112-003

Complex Event; expand row to view variants

De novo

-

Yuen2016 G
Yuen2016 G

TENM4

AU008505

chr11:
80411113-80411113

C

A

intergenic

De novo

-

Yuen2017 G

TENM4

2-1380-003

chr11:
78882933-78882933

G

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

TENM4

2-0003-004

chr11:
79863310-79863310

T

G

intergenic

De novo

-

Yuen2017 G

TENM4

AU076508

chr11:
79152917-79152917

C

T

intergenic

De novo

-

Yuen2017 G

TENM4

1-0413-003

chr11:
80184764-80184764

G

A

intergenic

De novo

-

Yuen2017 G

TENM4

AU3984302

chr11:
78688798-78688798

G

A

intronic

De novo

-

Yuen2017 G

TENM4

14153.p1

chr11:
78395505-78395505

G

A

intronic

De novo

-

Turner2016 G

TENM4

11572.p1

chr11:
78608885-78608885

A

G

intronic

De novo

-

Turner2016 G

TENM4

1-0138-003

chr11:
80107757-80107757

A

G

intergenic

De novo

-

Yuen2017 G

TENM4

13069.p1

chr11:
79669105-79669105

G

A

intergenic

De novo

-

Turner2016 G

TENM4

14153.p1

chr11:
78722482-78722482

G

A

intronic

De novo

-

Turner2016 G

TENM4

14015.p1

chr11:
79293732-79293732

C

T

intergenic

De novo

-

Turner2016 G

TENM4

2-0143-004

chr11:
78529794-78529794

G

C

intronic

De novo

-

Yuen2017 G

TENM4

PN400121

chr11:
78600956-78600956

G

A

exonic

Unknown

nonsynonymous SNV

NM_001098816

c.C958T

p.R320C

22.5

-

Leblond2019 E

TENM4

A23

chr11:
78700966-78700966

G

A

intronic

De novo

-

Wu2018 G

TENM4

AU4231301

chr11:
79571673-79571673

A

G

intergenic

De novo

-

Yuen2017 G

TENM4

08C74799

chr11:
78602317-78602317

C

T

exonic

De novo

nonsynonymous SNV

NM_001098816

c.G814A

p.G272S

11.57

4.618E-5

Fu2022 E
Satterstrom2020 E

TENM4

A17

chr11:
79079846-79079849

ATTG

A

intronic

De novo

-

Wu2018 G

TENM4

1-0359-003

chr11:
79496504-79496504

T

C

intergenic

De novo

-

Yuen2017 G

TENM4

1-0972-003

chr11:
79997053-79997053

G

A

intergenic

De novo

-

Yuen2017 G

TENM4

AU3368302

chr11:
78647390-78647390

C

T

intronic

De novo

-

Yuen2017 G

TENM4

5-0065-003

chr11:
78823121-78823121

C

T

intronic

De novo

-

Yuen2017 G

TENM4

2-0057-004

chr11:
78881584-78881584

G

A

intronic

De novo

-

Yuen2017 G

TENM4

2-1295-003

chr11:
78373991-78373991

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

TENM4

2-1152-003

chr11:
79611892-79611892

G

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TENM4

1-0045-004

chr11:
80194404-80194404

C

T

intergenic

De novo

-

Yuen2017 G

TENM4

1-0436-003

chr11:
80409939-80409939

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TENM4

2-1152-003

chr11:
80354523-80354523

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TENM4

AU021204

chr11:
78846765-78846765

C

T

intronic

De novo

-

Yuen2017 G

TENM4

AU051504

chr11:
79088448-79088459

ACTCTCTCTCTC

ACTCTCTCTC

intronic

De novo

-

Yuen2017 G

TENM4

AU4013302

chr11:
79546802-79546802

T

C

intergenic

De novo

-

Yuen2017 G

TENM4

1-0483-003

chr11:
78984829-78984829

C

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

TENM4

1-0552-003

chr11:
80321978-80321978

C

G

intergenic

De novo

-

Yuen2017 G

TENM4

2-1591-003

chr11:
78538157-78538157

A

C

intronic

De novo

-

Yuen2017 G

TENM4

AU046706

chr11:
79885347-79885347

G

A

intergenic

De novo

-

Yuen2017 G

TENM4

1-0559-004

chr11:
79465541-79465541

C

T

intergenic

De novo

-

Yuen2017 G

TENM4

2-1268-003

chr11:
79561453-79561453

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TENM4

2-1268-003

chr11:
80324548-80324548

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TENM4

3-0080-000

chr11:
78725215-78725215

C

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

TENM4

1-0169-003

chr11:
79382845-79382845

C

G

intergenic

De novo

-

Yuen2017 G

TENM4

3-0446-000

chr11:
80431353-80431353

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TENM4

AU4310301

chr11:
80020796-80020796

C

T

intergenic

De novo

-

Yuen2017 G

TENM4

2-1237-003

chr11:
79200642-79200642

T

C

intergenic

De novo

-

Yuen2017 G

TENM4

1-0323-004

chr11:
79696107-79696107

A

C

intergenic

De novo

-

Yuen2017 G

TENM4

2-0286-004

chr11:
79947069-79947073

AAAAC

A

intergenic

De novo

-

Yuen2017 G

TENM4

AU3052303

chr11:
78954180-78954180

T

G

intronic

De novo

-

Yuen2017 G

TENM4

1-0112-004

chr11:
79713160-79713160

T

C

intergenic

De novo

-

Yuen2017 G

TENM4

AU059903

chr11:
80021662-80021662

G

C

intergenic

De novo

-

Yuen2017 G

TENM4

AU2109302

chr11:
80294913-80294913

T

C

intergenic

De novo

-

Yuen2017 G

TENM4

AU3907301

chr11:
78508054-78508054

A

G

intronic

De novo

-

Yuen2017 G

TENM4

AU072904

chr11:
79314248-79314248

T

C

intergenic

De novo

-

Yuen2017 G

TENM4

AU1308303

chr11:
79523167-79523167

G

A

intergenic

De novo

-

Yuen2017 G

TENM4

1-0656-003

chr11:
80064863-80064863

G

A

intergenic

De novo

-

Yuen2017 G

TENM4

G01-GEA-313_HI

chr11:
78482116-78482116

G

A

exonic

De novo

synonymous SNV

NM_001098816

c.C2460T

p.V820V

10.88

-

Fu2022 E
Satterstrom2020 E

TENM4

AU3646301

chr11:
79281481-79281481

C

G

intergenic

De novo

-

Yuen2017 G

TENM4

2-0006-004

chr11:
79606614-79606614

G

C

intergenic

De novo

-

Yuen2017 G

TENM4

1-0032-003

chr11:
79667065-79667065

G

A

intergenic

De novo

-

Yuen2017 G

TENM4

1-0454-003

chr11:
80115025-80115025

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TENM4

2-1322-003

chr11:
79259366-79259366

A

G

intergenic

De novo

-

Yuen2017 G

TENM4

2-1359-004

chr11:
79879020-79879020

C

T

intergenic

De novo

-

Yuen2017 G

TENM4

1-0757-003

chr11:
80319548-80319548

A

G

intergenic

De novo

-

Yuen2017 G

TENM4

AU050603

chr11:
79576903-79576903

A

G

intergenic

De novo

-

Yuen2017 G

TENM4

A18

chr11:
79395949-79395949

T

C

intergenic

De novo

-

Wu2018 G

TENM4

1-0299-003

chr11:
79325828-79325828

C

A

intergenic

De novo

-

Yuen2017 G

TENM4

SSC02722

chr11:
78372516-78372516

G

A

exonic

De novo

nonsynonymous SNV

NM_001098816

c.C7529T

p.T2510M

25.6

4.507E-5

Fu2022 E

TENM4

2-1437-004

chr11:
80251687-80251687

A

G

intergenic

De novo

-

Yuen2017 G

TENM4

AU3861301

chr11:
78758352-78758352

C

T

intronic

De novo

-

Yuen2017 G

TENM4

2-0043-003

chr11:
79214694-79214694

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TENM4

1-0295-003

chr11:
79153451-79153451

C

T

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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