Variant Results

or

Results for "TNIK"

Variant Events: 32

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

TNIK

11030.p1

chr3:
170875262-170875262

C

T

exonic

De novo

nonsynonymous SNV

NM_001161560
NM_001161561
NM_001161562
NM_001161563
NM_001161564
NM_001161565
NM_001161566
NM_015028

c.G1208A
c.G1208A
c.G1208A
c.G1208A
c.G1208A
c.G1208A
c.G1208A
c.G1208A

p.R403Q
p.R403Q
p.R403Q
p.R403Q
p.R403Q
p.R403Q
p.R403Q
p.R403Q

21.2

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G

TNIK

5-0041-003

chr3:
171104764-171104764

C

T

intronic

De novo

-

Yuen2017 G

TNIK

3-0434-000

chr3:
170840294-170840294

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

TNIK

AU2029302

chr3:
171072273-171072273

G

A

intronic

De novo

-

Yuen2017 G

TNIK

AU4435301

chr3:
171030566-171030566

G

A

intronic

De novo

-

Yuen2017 G

TNIK

AU075210

chr3:
171032745-171032745

A

T

intronic

De novo

-

Yuen2017 G

TNIK

1-0054-003

chr3:
171213484-171213484

C

T

intergenic

De novo

-

Yuen2017 G

TNIK

13336.p1

chr3:
170783991-170783991

A

G

exonic

De novo

synonymous SNV

NM_001161566
NM_001161562
NM_001161564
NM_001161565
NM_001161560
NM_001161561
NM_001161563
NM_015028

c.T3708C
c.T3873C
c.T3795C
c.T3732C
c.T3960C
c.T3897C
c.T3819C
c.T3984C

p.C1236C
p.C1291C
p.C1265C
p.C1244C
p.C1320C
p.C1299C
p.C1273C
p.C1328C

-

Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E

TNIK

AU071804

chr3:
171068518-171068518

C

T

intronic

De novo

-

Yuen2017 G

TNIK

SSC07587

chr3:
170783991-170783991

A

G

exonic

De novo

synonymous SNV

NM_001161566
NM_001161562
NM_001161564
NM_001161565
NM_001161560
NM_001161561
NM_001161563
NM_015028

c.T3708C
c.T3873C
c.T3795C
c.T3732C
c.T3960C
c.T3897C
c.T3819C
c.T3984C

p.C1236C
p.C1291C
p.C1265C
p.C1244C
p.C1320C
p.C1299C
p.C1273C
p.C1328C

-

Fu2022 E
Lim2017 E

TNIK

7-0167-003

chr3:
171070057-171070057

T

A

intronic

De novo

-

Yuen2017 G

TNIK

1-0406-003

chr3:
170997704-170997704

T

C

intronic

De novo

-

Yuen2017 G

TNIK

Li2017:19612

chr3:
170875380-170875380

G

A

exonic

Unknown

nonsynonymous SNV

NM_001161560
NM_001161561
NM_001161562
NM_001161563
NM_001161564
NM_001161565
NM_001161566
NM_015028

c.C1090T
c.C1090T
c.C1090T
c.C1090T
c.C1090T
c.C1090T
c.C1090T
c.C1090T

p.R364C
p.R364C
p.R364C
p.R364C
p.R364C
p.R364C
p.R364C
p.R364C

32.0

4.415E-5

Li2017 T

TNIK

1-0210-004

chr3:
171116424-171116424

C

T

intronic

De novo

-

Yuen2017 G

TNIK

2-1318-004

chr3:
171181752-171181752

G

A

intergenic

De novo

-

Yuen2017 G

TNIK

SP0036733

chr3:
170856164-170856164

T

C

exonic

De novo

nonsynonymous SNV

NM_001161561
NM_001161562
NM_001161565
NM_001161566
NM_001161560
NM_001161563
NM_001161564
NM_015028

c.A1337G
c.A1337G
c.A1337G
c.A1337G
c.A1424G
c.A1424G
c.A1424G
c.A1424G

p.Y446C
p.Y446C
p.Y446C
p.Y446C
p.Y475C
p.Y475C
p.Y475C
p.Y475C

17.46

-

Fu2022 E

TNIK

2-1086-004

chr3:
171195687-171195687

A

T

intergenic

De novo

-

Yuen2017 G

TNIK

AU031404

chr3:
171101712-171101712

G

A

intronic

De novo

-

Yuen2017 G

TNIK

SP0087734

chr3:
170857214-170857214

A

G

intronic

De novo

-

Fu2022 E

TNIK

SP0043297

chr3:
170819240-170819240

C

T

exonic

De novo

synonymous SNV

NM_001161566
NM_001161562
NM_001161564
NM_001161565
NM_001161560
NM_001161561
NM_001161563
NM_015028

c.G2313A
c.G2478A
c.G2400A
c.G2337A
c.G2565A
c.G2502A
c.G2424A
c.G2589A

p.L771L
p.L826L
p.L800L
p.L779L
p.L855L
p.L834L
p.L808L
p.L863L

-

8.386E-6

Fu2022 E

TNIK

2-1350-003

chr3:
171153029-171153029

C

T

intronic

De novo

-

Yuen2017 G

TNIK

AU076808

chr3:
170951300-170951300

G

A

intronic

De novo

-

Yuen2017 G

TNIK

AU1909304

chr3:
170954163-170954170

TGTGAGTG

TGTG

intronic

De novo

-

Yuen2017 G

TNIK

Li2017:19639

chr3:
170912316-170912316

G

A

exonic

Unknown

nonsynonymous SNV

NM_001161560
NM_001161561
NM_001161562
NM_001161563
NM_001161564
NM_001161565
NM_001161566
NM_015028

c.C415T
c.C415T
c.C415T
c.C415T
c.C415T
c.C415T
c.C415T
c.C415T

p.R139W
p.R139W
p.R139W
p.R139W
p.R139W
p.R139W
p.R139W
p.R139W

20.2

8.299E-6

Li2017 T

TNIK

13188.p1

chr3:
170781738-170781738

C

T

exonic

De novo

nonsynonymous SNV

NM_001161566
NM_001161562
NM_001161564
NM_001161565
NM_001161560
NM_001161561
NM_001161563
NM_015028

c.G3739A
c.G3904A
c.G3826A
c.G3763A
c.G3991A
c.G3928A
c.G3850A
c.G4015A

p.V1247M
p.V1302M
p.V1276M
p.V1255M
p.V1331M
p.V1310M
p.V1284M
p.V1339M

18.99

8.319E-6

Ji2016 E

TNIK

11030_p1

chr3:
170875262-170875262

C

T

exonic

De novo

nonsynonymous SNV

NM_001161560
NM_001161561
NM_001161562
NM_001161563
NM_001161564
NM_001161565
NM_001161566
NM_015028

c.G1208A
c.G1208A
c.G1208A
c.G1208A
c.G1208A
c.G1208A
c.G1208A
c.G1208A

p.R403Q
p.R403Q
p.R403Q
p.R403Q
p.R403Q
p.R403Q
p.R403Q
p.R403Q

21.2

-

Fu2022 E

TNIK

AU2029303

chr3:
171072273-171072273

G

A

intronic

De novo

-

Yuen2017 G

TNIK

SP0030323

chr3:
170819370-170819392

TTTGTTTCTTCAATCCGGAGTTC

T

exonic

De novo

frameshift deletion

NM_001161566
NM_001161562
NM_001161564
NM_001161565
NM_001161560
NM_001161561
NM_001161563
NM_015028

c.2161_2182del
c.2326_2347del
c.2248_2269del
c.2185_2206del
c.2413_2434del
c.2350_2371del
c.2272_2293del
c.2437_2458del

p.E721fs
p.E776fs
p.E750fs
p.E729fs
p.E805fs
p.E784fs
p.E758fs
p.E813fs

-

Antaki2022 GE
Fu2022 E

TNIK

AU056604

chr3:
170975434-170975434

T

C

intronic

De novo

-

Yuen2017 G

TNIK

1-0412-003

chr3:
171170161-171170161

C

T

intronic

De novo

-

Yuen2017 G

TNIK

AU2123301

chr3:
170987088-170987088

T

C

intronic

De novo

-

Yuen2017 G

TNIK

2-1620-003

chr3:
171242193-171242193

A

AAGGAGAC

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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