Variant Results

or

or

Results for "KIF21B"

Variant Events: 21

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

KIF21B

AU051504

chr1:
200967153-200967153

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

KIF21B

1-0352-005

chr1:
200985466-200985466

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

KIF21B

AU3051302

chr1:
200954243-200954243

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

KIF21B

1335001

chr1:
200945946-200945946

C

G

exonic

De novo

nonsynonymous SNV

NM_001252103
NM_017596
NM_001252100
NM_001252102

c.G4362C
c.G4362C
c.G4401C
c.G4401C

p.Q1454H
p.Q1454H
p.Q1467H
p.Q1467H

9.194

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

KIF21B

AU038203

chr1:
200953521-200953521

A

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

KIF21B

1-0352-003

chr1:
200985466-200985466

T

C

intronic

De novo

-

-

Yuen2016 G

KIF21B

12424.p1

chr1:
200950048-200950048

G

C

intronic

De novo

-

-

Satterstrom2020 E

KIF21B

SP0144594

chr1:
200978126-200978126

C

T

intronic

De novo

-

Trost2022 G

KIF21B

2-0028-003

chr1:
200979596-200979596

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2016 G
Yuen2017 G

KIF21B

SP0006651

chr1:
200956014-200956014

G

A

exonic

De novo

nonsynonymous SNV

NM_001252100
NM_001252102
NM_001252103
NM_017596

c.C3647T
c.C3647T
c.C3647T
c.C3647T

p.P1216L
p.P1216L
p.P1216L
p.P1216L

23.2

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

KIF21B

4-0062-003

chr1:
200966171-200966171

T

G

intronic

De novo

-

-

Trost2022 G

KIF21B

MSSNG00366-003

chr1:
200992284-200992284

G

T

intronic

De novo

-

-

Trost2022 G

KIF21B

REACH000558

chr1:
200987541-200987541

G

A

intronic

De novo

-

-

Trost2022 G

KIF21B

4-0062-003

chr1:
200966162-200966164

AAT

CAC

intronic

De novo

-

-

Trost2022 G

KIF21B

1-0914-003

chr1:
200977685-200977685

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

KIF21B

SSC04859

chr1:
200950048-200950048

G

C

intronic

De novo

-

-

Trost2022 G

KIF21B

1792-23269

chr1:
200969864-200969864

G

A

exonic

Inherited

nonsynonymous SNV

NM_001252100
NM_001252102
NM_001252103
NM_017596

c.C1447T
c.C1447T
c.C1447T
c.C1447T

p.R483W
p.R483W
p.R483W
p.R483W

23.6

-

Callaghan2019 G

KIF21B

SP0090443

chr1:
200944632-200944632

T

G

exonic

De novo

nonsynonymous SNV

NM_001252103
NM_017596
NM_001252100
NM_001252102

c.A4570C
c.A4570C
c.A4609C
c.A4609C

p.I1524L
p.I1524L
p.I1537L
p.I1537L

7.606

-

Fu2022 E

KIF21B

22087.p1

chr1:
200943962-200943962

C

T

exonic

nonsynonymous SNV

NM_001252103
NM_017596
NM_001252100
NM_001252102

c.G4655A
c.G4655A
c.G4694A
c.G4694A

p.R1552H
p.R1552H
p.R1565H
p.R1565H

33.0

-

Zhou2022 GE

KIF21B

SP0007905

chr1:
200977896-200977896

C

T

splicing

De novo

splicing

25.3

-

Fu2022 E
Trost2022 G
Zhou2022 GE

KIF21B

SP0007307

chr1:
200945896-200945896

T

G

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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