Variant Results

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Results for "KIF2A"

Variant Events: 17

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

KIF2A

14667.p1

chr5:
61642937-61642937

T

C

intronic

Mosaic

-

Dou2017 E

KIF2A

1-0259-003

chr5:
61636038-61636038

G

A

intronic

De novo

-

-

Yuen2017 G

KIF2A

AU3809302

chr5:
61671715-61671715

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

KIF2A

1-0022-003

chr5:
61623858-61623858

A

G

intronic

De novo

-

-

Yuen2016 G

KIF2A

1-0022-004

chr5:
61623858-61623858

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

KIF2A

AU3713301

chr5:
61619206-61619206

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

KIF2A

1-0531-003

chr5:
61666951-61666951

G

A

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

KIF2A

AU056804

chr5:
61603173-61603173

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

KIF2A

AU047704

chr5:
61636257-61636258

AG

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

KIF2A

AU066104

Complex Event; expand row to view variants

De novo

-

-

Trost2022 G
Yuen2017 G

KIF2A

05HI4559A

chr5:
61654077-61654077

C

T

exonic

De novo

nonsynonymous SNV

NM_001098511
NM_001243953
NM_004520
NM_001243952

c.C823T
c.C766T
c.C823T
c.C763T

p.R275C
p.R256C
p.R275C
p.R255C

23.8

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

KIF2A

Mahjani2021:107

chr5:
61677022-61677022

T

A

exonic

stopgain

NM_001243953
NM_004520
NM_001098511
NM_001243952

c.T1920A
c.T1977A
c.T2091A
c.T1917A

p.Y640X
p.Y659X
p.Y697X
p.Y639X

37.0

-

Mahjani2021 E

KIF2A

3-0531-000

chr5:
61666579-61666579

G

GT

intronic

De novo

-

-

Trost2022 G

KIF2A

AU2137304

chr5:
61608555-61608555

T

C

intronic

De novo

-

-

Yuen2017 G

KIF2A

SJD_34.3

chr5:
61675282-61675282

G

A

intronic

De novo

-

-

Trost2022 G

KIF2A

1-0160-004

chr5:
61681329-61681329

G

A

exonic

De novo

nonsynonymous SNV

NM_001243953
NM_004520
NM_001098511
NM_001243952

c.G1997A
c.G2054A
c.G2168A
c.G1994A

p.R666H
p.R685H
p.R723H
p.R665H

18.3

-

Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE

KIF2A

4-0062-003

chr5:
61613513-61613513

A

T

intronic

De novo

-

-

Trost2022 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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