Variant Results

or

Results for "TENM2"

Variant Events: 165

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

TENM2

MSSNG00219-003

chr5:
167324430-167324430

A

T

intronic

De novo

-

Trost2022 G

TENM2

4-0075-003

chr5:
167325800-167325801

TC

AG

intronic

De novo

-

Trost2022 G

TENM2

AU4264302

chr5:
166500063-166500063

T

C

intergenic

De novo

-

Trost2022 G
Yuen2017 G

TENM2

7-0051-003

chr5:
167252256-167252256

T

C

intronic

De novo

-

Trost2022 G

TENM2

Cukier2014:7590

chr5:
167474474-167474474

A

G

exonic

Unknown

nonsynonymous SNV

NM_001122679

c.A1229G

p.D410G

16.21

0.0111

Cukier2014 E

TENM2

7-0396-003

chr5:
167297162-167297162

G

T

intronic

De novo

-

Trost2022 G

TENM2

1-1223-003

chr5:
167238983-167238983

A

T

intronic

De novo

-

Trost2022 G

TENM2

MSSNG00172-003

chr5:
167251361-167251361

G

A

intronic

De novo

-

Trost2022 G

TENM2

1-0664-003A

chr5:
167229992-167229992

C

T

intronic

De novo

-

Trost2022 G

TENM2

AU2310301

chr5:
167235905-167235905

T

G

intronic

De novo

-

Trost2022 G

TENM2

SP0062053

chr5:
167643863-167643863

T

G

exonic

De novo

nonsynonymous SNV

NM_001080428
NM_001122679

c.T3452G
c.T4142G

p.L1151R
p.L1381R

27.1

-

Fu2022 E
Trost2022 G
Zhou2022 GE

TENM2

4-0062-003

chr5:
167495130-167495130

T

G

intronic

De novo

-

Trost2022 G

TENM2

3-0007-000

chr5:
167510758-167510758

C

CT

intronic

De novo

-

Trost2022 G

TENM2

SP0069189

chr5:
167653089-167653089

C

G

intronic

De novo

-

Fu2022 E
Trost2022 G
Zhou2022 GE

TENM2

AU2463301

chr5:
167479731-167479731

G

A

intronic

De novo

-

Trost2022 G

TENM2

SP0021136

chr5:
167379737-167379737

C

T

exonic

De novo

nonsynonymous SNV

NM_001080428
NM_001122679

c.C284T
c.C857T

p.A95V
p.A286V

15.5

-

Fu2022 E
Trost2022 G
Zhou2022 GE

TENM2

3-0604-000

chr5:
167482445-167482445

A

C

intronic

De novo

-

Trost2022 G

TENM2

SJD_50.4

chr5:
167456609-167456611

CTG

C

intronic

De novo

-

Trost2022 G

TENM2

REACH000377

chr5:
167466608-167466610

ACT

A

intronic

De novo

-

Trost2022 G

TENM2

MSSNG00380-003

chr5:
167372102-167372102

A

G

intronic

De novo

-

Trost2022 G

TENM2

MSSNG00359-003

chr5:
167424800-167424800

C

T

intronic

De novo

-

Trost2022 G

TENM2

2-1508-004

chr5:
167633831-167633831

G

A

intronic

De novo

-

Trost2022 G

TENM2

4-0062-003

chr5:
167654235-167654235

T

A

intronic

De novo

-

Trost2022 G

TENM2

AU2458303

chr5:
167182386-167182386

A

G

intronic

De novo

-

Yuen2017 G

TENM2

5-5170-003

chr5:
167573320-167573320

G

C

intronic

De novo

-

Trost2022 G

TENM2

REACH000214

chr5:
167581191-167581191

C

A

intronic

De novo

-

Trost2022 G

TENM2

AU057405

chr5:
167408716-167408716

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TENM2

2-1774-003

chr5:
167559036-167559036

A

C

intronic

De novo

-

Trost2022 G

TENM2

2-0003-003

chr5:
167563899-167563908

CTCAACTGCA

T

intronic

De novo

-

Trost2022 G

TENM2

5-5004-003

chr5:
167531423-167531423

T

G

intronic

De novo

-

Trost2022 G

TENM2

SP0161018

chr5:
167553964-167553964

C

T

exonic

De novo

synonymous SNV

NM_001080428

c.C1719T

p.T573T

-

Trost2022 G

TENM2

2-1198-003

chr5:
167680772-167680772

G

A

intronic

De novo

-

Trost2022 G

TENM2

SP0083371

chr5:
167671772-167671772

T

C

intronic

De novo

-

Trost2022 G

TENM2

AU049304

chr5:
166972830-166972830

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TENM2

REACH000639

chr5:
167677977-167677977

G

A

intronic

De novo

-

Trost2022 G

TENM2

AU2320301

chr5:
167656492-167656492

C

T

intronic

De novo

-

Trost2022 G

TENM2

3-0723-000

chr5:
167668043-167668043

G

T

intronic

De novo

-

Trost2022 G

TENM2

9-0010-003

chr5:
167654553-167654553

A

AAAT

intronic

De novo

-

Trost2022 G

TENM2

10-0006-003

chr5:
167654553-167654553

A

AAAT

intronic

De novo

-

Trost2022 G

TENM2

12014.p1

chr5:
167525141-167525141

C

T

intronic

De novo

-

2.832E-5

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

TENM2

11044.p1

chr5:
167553867-167553867

G

T

exonic

De novo

nonsynonymous SNV

NM_001080428
NM_001122679

c.G1622T
c.G2318T

p.R541L
p.R773L

14.64

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

TENM2

14032.p1

chr5:
167689454-167689454

C

T

exonic

De novo

nonsynonymous SNV

NM_001080428
NM_001122679

c.C7247T
c.C7937T

p.T2416M
p.T2646M

16.07

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE

TENM2

1-0075-003

chr5:
167612457-167612487

GATCATCATCATCATCAACATCATCATCATC

GATCATCATCATCAACATCATCATCATC

intronic

De novo

-

Yuen2017 G

TENM2

7-0059-003

chr5:
167267117-167267117

C

A

intronic

De novo

-

Yuen2017 G

TENM2

AU2140306

chr5:
166977112-166977112

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TENM2

1-0125-003

chr5:
167054213-167054213

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

TENM2

1-0763-003

chr5:
167136572-167136572

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TENM2

1-0125-003

chr5:
167053812-167053812

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

TENM2

2-0110-003

chr5:
167513456-167513456

C

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

TENM2

1-0636-003

chr5:
166766496-166766496

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TENM2

2-0110-003

chr5:
166683544-166683544

A

G

intergenic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

TENM2

11341.p1

chr5:
166473545-166473545

A

G

intergenic

De novo

-

Turner2016 G

TENM2

AU4260303

chr5:
167589773-167589773

G

A

intronic

De novo

-

3.0E-4

Trost2022 G
Yuen2017 G

TENM2

14642.p1

chr5:
167655695-167655695

G

A

intronic

De novo

-

Turner2016 G

TENM2

1-0186-005

chr5:
167538254-167538254

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TENM2

11252.p1

chr5:
166816546-166816546

A

G

intronic

De novo

-

Turner2016 G

TENM2

12011.p1

chr5:
167237481-167237481

C

A

intronic

De novo

-

Turner2016 G

TENM2

2-0298-003

chr5:
166891249-166891249

T

TAGAG

intronic

De novo

-

Trost2022 G
Yuen2017 G

TENM2

1-0065-005

chr5:
167208832-167208832

G

C

intronic

De novo

-

Yuen2017 G

TENM2

2-1399-003

chr5:
166855212-166855212

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TENM2

AU056804

chr5:
166488850-166488850

G

T

intergenic

De novo

-

Yuen2017 G

TENM2

1-0401-003

chr5:
166816611-166816611

G

GTGAT

intronic

De novo

-

Trost2022 G
Yuen2017 G

TENM2

AU056204

chr5:
167704578-167704578

G

C

intergenic

De novo

-

Yuen2017 G

TENM2

AU3263302

chr5:
167456392-167456392

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TENM2

1-0224-004

chr5:
167469951-167469951

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

TENM2

2-1258-003

chr5:
166985011-166985011

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TENM2

AU021204

chr5:
167314043-167314043

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

TENM2

2-1283-003

chr5:
166443245-166443245

C

T

intergenic

De novo

-

Yuen2017 G

TENM2

5-0140-003

chr5:
167691547-167691547

A

G

downstream

De novo

-

Trost2022 G
Yuen2017 G

TENM2

7-0102-003

chr5:
167030315-167030315

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TENM2

7-0161-003

chr5:
166630659-166630659

T

C

intergenic

De novo

-

Trost2022 G
Yuen2017 G

TENM2

2-1241-003

chr5:
167601508-167601510

TCA

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

TENM2

AU3849303

chr5:
167066365-167066365

C

A

intronic

De novo

-

Yuen2017 G

TENM2

2-1345-003

chr5:
166611195-166611195

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TENM2

5-0099-003

chr5:
167297121-167297121

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

TENM2

1-0104-003

chr5:
167017358-167017358

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TENM2

2-1362-004

chr5:
167193646-167193646

C

CT

intronic

De novo

-

Trost2022 G
Yuen2017 G

TENM2

19890-31485

chr5:
167673943-167673943

A

G

exonic

Inherited

nonsynonymous SNV

NM_001080428
NM_001122679

c.A5282G
c.A5972G

p.Y1761C
p.Y1991C

14.19

-

Callaghan2019 G

TENM2

AU3051302

chr5:
167364731-167364731

C

T

intronic

De novo

-

Yuen2017 G

TENM2

1-0300-003

chr5:
167490603-167490603

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

TENM2

60-2027

chr5:
167400872-167400872

A

G

intronic

De novo

-

Michaelson2012 G

TENM2

AU4429301

chr5:
167588052-167588052

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TENM2

2-1389-003

chr5:
167513754-167513754

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

TENM2

AU1764301

chr5:
167534730-167534730

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TENM2

AU1952305

chr5:
167268970-167268970

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

TENM2

1-0255-003

chr5:
166873301-166873301

A

C

intronic

De novo

-

Yuen2016 G

TENM2

AU030A

chr5:
167653125-167653125

C

T

exonic

De novo

nonsynonymous SNV

NM_001080428
NM_001122679

c.C4424T
c.C5114T

p.T1475M
p.T1705M

27.2

8.781E-5

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

TENM2

2-0016-003

chr5:
166866884-166866884

G

A

intronic

De novo

-

Yuen2017 G

TENM2

AU2433302

chr5:
166624784-166624784

C

T

intergenic

De novo

-

Yuen2017 G

TENM2

2-1438-003

chr5:
167650597-167650597

C

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

TENM2

AU3907301

chr5:
166780860-166780862

CGG

CG

intronic

De novo

-

Yuen2017 G

TENM2

2-1338-003

chr5:
166652688-166652689

AT

A

intergenic

De novo

-

Trost2022 G
Yuen2017 G

TENM2

1-0530-003

chr5:
167584924-167584943

GTGTTGTTGTTGTTGTTGTT

GTGTTGTTGTTGTTGTT

intronic

De novo

-

Yuen2017 G

TENM2

2-0014-003

chr5:
166558989-166558989

G

A

intergenic

De novo

-

Trost2022 G

TENM2

1-0010-003

chr5:
166560217-166560219

GAT

AA

intergenic

De novo

-

Trost2022 G

TENM2

AU2318301

chr5:
166519736-166519736

A

G

intergenic

De novo

-

Trost2022 G

TENM2

7-0342-003

chr5:
166544676-166544676

C

T

intergenic

De novo

-

Trost2022 G

TENM2

MSSNG00003-004

chr5:
166517628-166517628

A

AT

intergenic

De novo

-

Trost2022 G

TENM2

2-1283-004

chr5:
166443245-166443245

C

T

intergenic

De novo

-

Yuen2017 G

TENM2

REACH000640

chr5:
166674894-166674894

G

A

intergenic

De novo

-

Trost2022 G

TENM2

MT_156.3

chr5:
166684765-166684765

T

C

intergenic

De novo

-

Trost2022 G

TENM2

4-0095-003

chr5:
166667590-166667590

G

A

intergenic

De novo

-

Trost2022 G

TENM2

MSSNG00124-003

chr5:
166674686-166674686

C

A

intergenic

De novo

-

Trost2022 G

TENM2

AU055603

chr5:
166662501-166662501

T

G

intergenic

De novo

-

Trost2022 G

TENM2

2-1254-003

chr5:
167256626-167256626

A

G

intronic

De novo

-

Yuen2016 G

TENM2

2-1688-003

chr5:
166664783-166664783

C

T

intergenic

De novo

-

Trost2022 G

TENM2

AU2310301

chr5:
166585821-166585821

G

A

intergenic

De novo

-

Trost2022 G

TENM2

MT_160.3

chr5:
166598705-166598705

C

T

intergenic

De novo

-

Trost2022 G

TENM2

2-0103-004

chr5:
166860682-166860686

GTCTT

G

intronic

De novo

-

Trost2022 G

TENM2

2-0103-003

chr5:
166860682-166860686

GTCTT

G

intronic

De novo

-

Trost2022 G

TENM2

AU2072302

chr5:
167393080-167393080

A

G

intronic

De novo

-

Yuen2017 G

TENM2

2-1131-003

chr5:
166790772-166790772

G

A

intronic

De novo

-

Trost2022 G

TENM2

3-0648-000

chr5:
166855205-166855205

A

T

intronic

De novo

-

Trost2022 G

TENM2

MSSNG00432-003

chr5:
166780246-166780246

T

C

intronic

De novo

-

Trost2022 G

TENM2

1-0404-003

chr5:
167421748-167421748

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TENM2

2-1131-003

chr5:
166790770-166790770

G

A

intronic

De novo

-

Trost2022 G

TENM2

AU2320301

chr5:
166728318-166728318

C

A

intronic

De novo

-

Trost2022 G

TENM2

4-0077-003

chr5:
166775767-166775768

CC

AA

intronic

De novo

-

Trost2022 G

TENM2

7-0470-003

chr5:
166977112-166977112

A

T

intronic

De novo

-

Trost2022 G

TENM2

2-0116-005

chr5:
166978957-166978961

CAGTC

TAACA

intronic

De novo

-

Trost2022 G

TENM2

3-0654-000

chr5:
166964619-166964619

C

T

intronic

De novo

-

Trost2022 G

TENM2

5-5223-003

chr5:
166966848-166966848

T

C

intronic

De novo

-

Trost2022 G

TENM2

MSSNG00085-003

chr5:
166925018-166925018

G

A

intronic

De novo

-

Trost2022 G

TENM2

1-0105-003

chr5:
166955888-166955890

AAG

A

intronic

De novo

-

Trost2022 G

TENM2

2-1398-003

chr5:
166885384-166885385

CA

TT

intronic

De novo

-

Trost2022 G

TENM2

3-0508-000

chr5:
166917594-166917594

C

G

intronic

De novo

-

Trost2022 G

TENM2

AU2140305

chr5:
166690816-166690816

A

T

intergenic

De novo

-

Trost2022 G
Yuen2017 G

TENM2

4-0028-003

chr5:
167027115-167027115

T

TC

intronic

De novo

-

Trost2022 G

TENM2

4-0028-003

chr5:
167027119-167027119

A

CCTG

intronic

De novo

-

Trost2022 G

TENM2

1-0350-003

chr5:
167027064-167027070

TTGCTTG

AAAAAAA

intronic

De novo

-

Trost2022 G

TENM2

4-0028-003

chr5:
167027094-167027112

CATTTATAGGATACGTGGA

AGCCAACACTGCACCACTCC

intronic

De novo

-

Trost2022 G

TENM2

1-0340-004

chr5:
167027064-167027070

TTGCTTG

AAAAAAA

intronic

De novo

-

Trost2022 G

TENM2

2-1715-004

chr5:
167027064-167027070

TTGCTTG

AAAAAAA

intronic

De novo

-

Trost2022 G

TENM2

1-0321-004

chr5:
166407672-166407672

T

A

intergenic

De novo

-

Yuen2017 G

TENM2

2-1350-003

chr5:
166555222-166555222

A

G

intergenic

De novo

-

Trost2022 G
Yuen2017 G

TENM2

1-0562-003

chr5:
167027064-167027070

TTGCTTG

AAAAAAA

intronic

De novo

-

Trost2022 G

TENM2

2-1528-003

chr5:
167027064-167027070

TTGCTTG

AAAAAAA

intronic

De novo

-

Trost2022 G

TENM2

SSC02531

chr5:
167553867-167553867

G

T

exonic

De novo

nonsynonymous SNV

NM_001080428
NM_001122679

c.G1622T
c.G2318T

p.R541L
p.R773L

14.64

-

Fu2022 E
Trost2022 G

TENM2

1-1120-003

chr5:
167146437-167146437

A

G

intronic

De novo

-

Trost2022 G

TENM2

SSC09977

chr5:
167689454-167689454

C

T

exonic

De novo

nonsynonymous SNV

NM_001080428
NM_001122679

c.C7247T
c.C7937T

p.T2416M
p.T2646M

16.07

-

Fu2022 E
Trost2022 G

TENM2

AU2221301

chr5:
167164212-167164212

T

C

intronic

De novo

-

Trost2022 G

TENM2

5-0109-003

chr5:
166393651-166393651

G

A

intergenic

De novo

-

Yuen2017 G

TENM2

MSSNG00351-003

chr5:
167101715-167101716

AC

A

intronic

De novo

-

Trost2022 G

TENM2

P6Q4Z_01

chr5:
167143342-167143342

C

T

intronic

De novo

-

Trost2022 G

TENM2

AU4069302

chr5:
166496706-166496719

GTGGTTATCATTGG

GTGG

intergenic

De novo

-

Yuen2017 G

TENM2

1-1039-003

chr5:
167091724-167091724

G

A

intronic

De novo

-

Trost2022 G

TENM2

3-0703-000

chr5:
167096705-167096705

T

C

intronic

De novo

-

Trost2022 G

TENM2

3-0176-000

chr5:
167032999-167032999

A

C

intronic

De novo

-

Trost2022 G

TENM2

5-5165-003

chr5:
167064621-167064621

T

G

intronic

De novo

-

Trost2022 G

TENM2

4-0062-003

chr5:
167221624-167221624

A

C

intronic

De novo

-

Trost2022 G

TENM2

4-0062-003

chr5:
167221630-167221631

GC

AG

intronic

De novo

-

Trost2022 G

TENM2

4-0062-003

chr5:
167210291-167210292

AG

TC

intronic

De novo

-

Trost2022 G

TENM2

1-0041-003

chr5:
166627669-166627669

T

C

intergenic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

TENM2

REACH000224

chr5:
167213996-167213997

AG

A

intronic

De novo

-

Trost2022 G

TENM2

SP0043789

chr5:
167642202-167642202

C

T

exonic

stopgain

NM_001080428
NM_001122679

c.C3286T
c.C3976T

p.Q1096X
p.Q1326X

41.0

-

Zhou2022 GE

TENM2

2-1760-003

chr5:
167200223-167200223

C

A

intronic

De novo

-

Trost2022 G

TENM2

7-0174-003

chr5:
166803027-166803027

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

TENM2

MSSNG00005-004

chr5:
167208832-167208832

G

C

intronic

De novo

-

Trost2022 G

TENM2

1-0402-004

chr5:
167011229-167011229

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TENM2

AU4433301

chr5:
167486533-167486533

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TENM2

1-0633-003

chr5:
167675268-167675268

T

C

exonic

De novo

nonsynonymous SNV

NM_001080428
NM_001122679

c.T6607C
c.T7297C

p.Y2203H
p.Y2433H

7.979

-

Trost2022 G
Zhou2022 GE

TENM2

1-0565-004

chr5:
167175615-167175617

ACT

GCC

intronic

De novo

-

Trost2022 G

TENM2

2-1305-003

chr5:
167650098-167650098

A

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

TENM2

11188.p1

chr5:
167673928-167673928

C

T

exonic

nonsynonymous SNV

NM_001080428
NM_001122679

c.C5267T
c.C5957T

p.S1756L
p.S1986L

24.2

4.969E-5

Zhou2022 GE

TENM2

10-0005-003

chr5:
167194308-167194308

G

A

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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