Variant Results

or

Results for "KIF1B"

Variant Events: 28

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

KIF1B

1-0990-003

chr1:
10287481-10287481

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIF1B

2-1116-003

chr1:
10300735-10300735

A

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

KIF1B

EGAN00001101089

chr1:
10316353-10316353

T

G

exonic

De novo

nonsynonymous SNV

NM_015074
NM_183416

c.T155G
c.T155G

p.F52C
p.F52C

25.4

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

KIF1B

ASC_CA_81_A

chr1:
10434983-10434983

T

A

exonic

De novo

nonsynonymous SNV

NM_015074

c.T5030A

p.V1677D

23.4

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

KIF1B

EGAN00001101085

chr1:
10380211-10380211

G

A

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

KIF1B

2-1398-003

chr1:
10315846-10315850

ATTGT

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIF1B

5911015411597-C

chr1:
10292403-10292403

T

G

exonic

De novo

nonsynonymous SNV

NM_015074
NM_183416

c.T17G
c.T17G

p.V6G
p.V6G

24.3

-

Fu2022 E

KIF1B

2-0285-004

chr1:
10285739-10285741

AGC

GAA

intronic

De novo

-

Trost2022 G

KIF1B

1-0738-003

chr1:
10274015-10274015

C

A

intronic

De novo

-

Trost2022 G

KIF1B

3-0072-000

chr1:
10381569-10381569

A

G

intronic

De novo

-

Trost2022 G

KIF1B

7-0328-003

chr1:
10352079-10352079

T

A

intronic

De novo

-

Trost2022 G

KIF1B

PN400576

chr1:
10425470-10425470

G

A

exonic

Unknown

nonsynonymous SNV

NM_015074

c.G4378A

p.E1460K

35.0

0.0012

Leblond2019 E

KIF1B

PN400129

chr1:
10425470-10425470

G

A

exonic

Unknown

nonsynonymous SNV

NM_015074

c.G4378A

p.E1460K

35.0

0.0012

Leblond2019 E

KIF1B

AU2129301

chr1:
10449801-10449801

G

A

intergenic

De novo

-

Yuen2017 G

KIF1B

3-0161-000

chr1:
10413715-10413715

G

T

intronic

De novo

-

Trost2022 G

KIF1B

2-1398-004

chr1:
10315846-10315850

ATTGT

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIF1B

7-0344-003

chr1:
10387143-10387143

T

A

intronic

De novo

-

Trost2022 G

KIF1B

4-0062-003

chr1:
10422647-10422648

AG

TA

intronic

De novo

-

Trost2022 G

KIF1B

5-0024-003

chr1:
10413831-10413831

A

G

intronic

De novo

-

Trost2022 G

KIF1B

5-0077-003

chr1:
10415941-10415941

T

TTA

intronic

De novo

-

Yuen2017 G

KIF1B

11946.p1

chr1:
10311172-10311172

C

T

intronic

De novo

-

Werling2018 G

KIF1B

ASC_1H696

chr1:
10328248-10328248

G

A

exonic

De novo

nonsynonymous SNV

NM_015074
NM_183416

c.G647A
c.G647A

p.R216H
p.R216H

36.0

-

Fu2022 E

KIF1B

SP0081776

chr1:
10435178-10435178

G

A

intronic

De novo

-

Fu2022 E

KIF1B

1-0191-004

chr1:
10313989-10313989

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIF1B

SP0005064

chr1:
10403264-10403264

T

G

intronic

De novo

-

Fu2022 E

KIF1B

2-0143-005

chr1:
10331599-10331599

C

T

exonic

De novo

stopgain

NM_015074
NM_183416

c.C760T
c.C760T

p.R254X
p.R254X

36.0

-

Yuen2015 G

KIF1B

SP0078103

chr1:
10316374-10316374

A

C

exonic

De novo

nonsynonymous SNV

NM_015074
NM_183416

c.A176C
c.A176C

p.H59P
p.H59P

24.5

-

Fu2022 E

KIF1B

PN400137

chr1:
10425470-10425470

G

A

exonic

Unknown

nonsynonymous SNV

NM_015074

c.G4378A

p.E1460K

35.0

0.0012

Leblond2019 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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