Variant Results

or

Results for "KIF13B"

Variant Events: 36

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

KIF13B

2-1562-004

chr8:
29009341-29009345

GGATC

AAAAAAA

intronic

De novo

-

Trost2022 G

KIF13B

2-0028-003

chr8:
29033775-29033775

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

KIF13B

2-1370-003

chr8:
29034332-29034332

A

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

KIF13B

2-1401-003

chr8:
29009341-29009345

GGATC

AAAAAAAAAAAAA

intronic

De novo

-

Trost2022 G

KIF13B

DEASD_0310_001

chr8:
28976449-28976449

G

C

exonic

De novo

nonsynonymous SNV

NM_015254

c.C3596G

p.T1199S

17.72

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

KIF13B

7-0255-003

chr8:
29076024-29076024

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIF13B

REACH000762

chr8:
28960780-28960780

G

A

intronic

De novo

-

Trost2022 G

KIF13B

SP0198529

chr8:
28997949-28997949

T

G

intronic

De novo

-

Trost2022 G

KIF13B

2-1068-003

chr8:
28942097-28942097

G

A

intronic

De novo

-

Trost2022 G

KIF13B

2-1721-003

chr8:
29004893-29004893

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIF13B

MT_160.4

chr8:
28944218-28944222

ACTAT

A

intronic

De novo

-

Trost2022 G

KIF13B

7-0224-003

chr8:
29110748-29110748

C

T

intronic

De novo

-

Trost2022 G

KIF13B

7-0337-004

chr8:
29119336-29119336

G

A

intronic

De novo

-

Trost2022 G

KIF13B

3-0178-000

chr8:
29056873-29056873

A

G

intronic

De novo

-

Trost2022 G

KIF13B

2-0116-004

chr8:
28939612-28939612

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIF13B

1-1122-003

chr8:
29083945-29083945

C

T

intronic

De novo

-

Trost2022 G

KIF13B

REACH000233

chr8:
29034467-29034467

G

A

intronic

De novo

-

Trost2022 G

KIF13B

4-0062-003

chr8:
29048980-29048982

TAG

AAA

intronic

De novo

-

Trost2022 G

KIF13B

REACH000229

chr8:
29024242-29024242

G

A

intronic

De novo

-

Trost2022 G

KIF13B

MSSNG00061-003

chr8:
29028636-29028636

G

A

intronic

De novo

-

Trost2022 G

KIF13B

AU4159301

chr8:
29129060-29129060

C

T

intergenic

De novo

-

Yuen2017 G

KIF13B

2-1277-003

chr8:
29115931-29115931

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIF13B

AU2089302

chr8:
28943853-28943853

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIF13B

AU056005

chr8:
28929757-28929757

G

A

exonic

De novo

nonsynonymous SNV

NM_015254

c.C4598T

p.A1533V

14.14

3.861E-5

Trost2022 G
Yuen2017 G
Zhou2022 GE

KIF13B

SP0014997

chr8:
28997727-28997727

G

C

intronic

De novo

-

Fu2022 E

KIF13B

SP0033756

chr8:
28928228-28928228

G

A

exonic

De novo

synonymous SNV

NM_015254

c.C5274T

p.Y1758Y

-

Fu2022 E
Trost2022 G
Zhou2022 GE

KIF13B

MSSNG00039-003

chr8:
28989889-28989889

G

A

exonic

De novo

nonsynonymous SNV

NM_015254

c.C2878T

p.R960W

15.56

4.996E-5

Trost2022 G
Zhou2022 GE

KIF13B

AU2381302

chr8:
28925466-28925466

C

T

UTR3

De novo

-

Yuen2017 G

KIF13B

SP0036478

chr8:
28998127-28998127

C

T

exonic

De novo

nonsynonymous SNV

NM_015254

c.G2342A

p.R781Q

19.12

1.687E-5

Trost2022 G
Zhou2022 GE

KIF13B

SSC03351

chr8:
29005051-29005051

G

A

exonic

De novo

nonsynonymous SNV

NM_015254

c.C1882T

p.R628C

19.91

-

Fu2022 E
Lim2017 E
Trost2022 G

KIF13B

SP0086658

chr8:
29023155-29023155

G

C

intronic

De novo

-

8.388E-6

Fu2022 E

KIF13B

SP0000759

chr8:
28991489-28991489

G

C

intronic

De novo

-

Fu2022 E

KIF13B

2-0296-003

chr8:
29015609-29015610

CT

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIF13B

14370.p1

chr8:
29076881-29076881

A

G

intronic

De novo

-

Turner2016 G

KIF13B

AU1635302

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

KIF13B

11658.p1

chr8:
29005051-29005051

G

A

exonic

De novo

nonsynonymous SNV

NM_015254

c.C1882T

p.R628C

19.91

-

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

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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