Variant Results

or

or

Results for "KIF3B"

Variant Events: 13

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

KIF3B

SP0138692

chr20:
30897629-30897629

C

T

exonic

De novo

nonsynonymous SNV

NM_004798

c.C49T

p.R17W

17.91

Trost2022 G

KIF3B

7-0324-003

chr20:
30882711-30882711

T

TA

intronic

De novo

-

-

Trost2022 G

KIF3B

1-0565-004

chr20:
30881571-30881576

ATATGT

A

intronic

De novo

-

-

Trost2022 G

KIF3B

1-1133-003

chr20:
30874849-30874849

T

C

intronic

De novo

-

-

Trost2022 G

KIF3B

5-0071-003

chr20:
30868339-30868339

A

AACCCCATCTCT

intronic

De novo

-

-

Trost2022 G

KIF3B

111296

chr20:
30918073-30918073

G

A

exonic

nonsynonymous SNV

NM_004798

c.G2098A

p.V700M

21.2

-

Woodbury-Smith2022 E

KIF3B

13167.p1

chr20:
30898289-30898289

C

T

exonic

nonsynonymous SNV

NM_004798

c.C709T

p.R237C

17.69

-

Zhou2022 GE

KIF3B

AU3692301

chr20:
30892156-30892156

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

KIF3B

SP0215925

chr20:
30918166-30918166

A

G

intronic

De novo

-

-

Trost2022 G

KIF3B

1-1217-003

chr20:
30913253-30913253

G

A

intronic

De novo

-

-

Trost2022 G

KIF3B

2-1429-003

chr20:
30926213-30926213

G

A

intergenic

De novo

-

-

Yuen2017 G

KIF3B

2-1729-003

chr20:
30924692-30924692

A

G

intergenic

De novo

-

-

Yuen2017 G

KIF3B

1674001

chr20:
30897630-30897630

G

A

exonic

De novo

nonsynonymous SNV

NM_004798

c.G50A

p.R17Q

26.1

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
	More