Variant Results

or

or

Results for "TTBK2"

Variant Events: 25

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

TTBK2

2-1434-003

chr15:
43043752-43043752

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2016 G
Yuen2017 G

TTBK2

mAGRE2748

chr15:
43069317-43069317

G

A

exonic

Paternal

stopgain

NM_173500

c.C1321T

p.R441X

38.0

Cirnigliaro2023 G

TTBK2

1-0965-003

chr15:
43124376-43124376

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

TTBK2

3-0626-000A

chr15:
43129613-43129613

T

G

intronic

De novo

-

-

Trost2022 G

TTBK2

SP0123274

chr15:
43170916-43170916

T

C

intronic

De novo

-

-

Trost2022 G

TTBK2

MSSNG00423-004

chr15:
43120438-43120438

C

G

intronic

De novo

-

-

Trost2022 G

TTBK2

REACH000224

chr15:
43126406-43126406

T

A

intronic

De novo

-

-

Trost2022 G

TTBK2

2-1460-003

chr15:
43218940-43218944

CTGTG

CTG

intergenic

De novo

-

-

Yuen2017 G

TTBK2

7-0410-003

chr15:
43080264-43080269

TAGAAA

T

intronic

De novo

-

-

Trost2022 G

TTBK2

1-1154-003

chr15:
43113418-43113418

G

T

intronic

De novo

-

-

Trost2022 G

TTBK2

AU4152303

chr15:
43154375-43154375

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

TTBK2

SP0173593

chr15:
43044658-43044658

G

A

exonic

De novo

nonsynonymous SNV

NM_173500

c.C2786T

p.T929I

13.09

-

Trost2022 G

TTBK2

2-1625-003

chr15:
43200752-43200752

T

C

intronic

De novo

-

-

Trost2022 G

TTBK2

AU2485305

Complex Event; expand row to view variants

De novo

-

-

Trost2022 G
Yuen2017 G

TTBK2

iHART2748

chr15:
43069317-43069317

G

A

exonic

Paternal

stopgain

NM_173500

c.C1321T

p.R441X

38.0

Ruzzo2019 G

TTBK2

SP0084433

chr15:
43122255-43122255

G

A

exonic

De novo

nonsynonymous SNV

NM_173500

c.C313T

p.R105C

29.7

-

Fu2022 E
Trost2022 G
Zhou2022 GE

TTBK2

1-0490-003

chr15:
43094104-43094104

A

C

intronic

De novo

0.019

-

Trost2022 G
Yuen2017 G

TTBK2

SP0060679

chr15:
43069399-43069399

A

C

exonic

De novo

synonymous SNV

NM_173500

c.T1239G

p.G413G

-

-

Fu2022 E
Trost2022 G
Zhou2022 GE

TTBK2

SP0064957

chr15:
43044864-43044864

G

A

exonic

De novo

synonymous SNV

NM_173500

c.C2580T

p.D860D

-

Fu2022 E
Trost2022 G
Zhou2022 GE

TTBK2

5-0083-003

chr15:
43052601-43052602

AC

A

intronic

De novo

-

-

Yuen2017 G

TTBK2

AU3905302

chr15:
43127837-43127837

A

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

TTBK2

1-0384-003

chr15:
43054265-43054265

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

TTBK2

1-0138-004

chr15:
43088524-43088524

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

TTBK2

SP0100680

chr15:
43170926-43170926

A

G

intronic

De novo

-

-

Fu2022 E

TTBK2

SP0011335

chr15:
43122327-43122327

A

C

intronic

De novo

-

-

Fu2022 E

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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