Variant Results

or

or

Results for "KIF13A"

Variant Events: 22

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

KIF13A

1-0656-003

chr6:
18021491-18021494

GTTT

GTTTT

intergenic

De novo

-

-

Yuen2017 G

KIF13A

1-0736-003

chr6:
17846232-17846232

T

G

intronic

De novo

-

-

Yuen2017 G

KIF13A

11592.p1

chr6:
17773790-17773790

T

C

exonic

Mosaic

nonsynonymous SNV

NM_001105567
NM_001105568
NM_001105566
NM_022113

c.A4204G
c.A4204G
c.A4243G
c.A4243G

p.M1402V
p.M1402V
p.M1415V
p.M1415V

2.458

Dou2017 E

KIF13A

1-0259-005

chr6:
18013083-18013083

C

A

intergenic

De novo

-

-

Yuen2017 G

KIF13A

AU3729301

chr6:
17759547-17759547

A

G

UTR3

De novo

-

-

Yuen2017 G

KIF13A

AU1894304

chr6:
17852250-17852250

C

T

exonic

De novo

nonsynonymous SNV

NM_001105566
NM_001105567
NM_001105568
NM_022113

c.G518A
c.G518A
c.G518A
c.G518A

p.R173Q
p.R173Q
p.R173Q
p.R173Q

35.0

-

Yuen2017 G

KIF13A

SP0018753

chr6:
17837268-17837268

G

A

exonic

De novo

synonymous SNV

NM_001105566
NM_001105567
NM_001105568
NM_022113

c.C996T
c.C996T
c.C996T
c.C996T

p.A332A
p.A332A
p.A332A
p.A332A

-

Feliciano2019 E

KIF13A

2-1170-003

chr6:
17977201-17977201

C

T

intronic

De novo

-

-

Yuen2017 G

KIF13A

2-1427-003

chr6:
17927262-17927262

T

G

intronic

De novo

-

-

Yuen2017 G

KIF13A

AU4028302

chr6:
18011768-18011768

C

T

intergenic

De novo

-

-

Yuen2017 G

KIF13A

PN400391

chr6:
17764960-17764960

A

G

exonic

Unknown

nonsynonymous SNV

NM_001105567
NM_001105568
NM_001105566
NM_022113

c.T4655C
c.T4655C
c.T4694C
c.T4799C

p.F1552S
p.F1552S
p.F1565S
p.F1600S

26.8

Leblond2019 E

KIF13A

11572.p1

chr6:
17909648-17909648

A

T

intronic

De novo

-

-

Turner2016 G

KIF13A

1-0524-003

chr6:
17938956-17938956

T

C

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

KIF13A

2-1369-003

chr6:
18010647-18010647

T

G

intergenic

De novo

-

-

Yuen2017 G

KIF13A

AU3790302

chr6:
17811955-17811955

A

C

intronic

De novo

-

-

Yuen2017 G

KIF13A

PN400182

chr6:
17764960-17764960

A

G

exonic

Unknown

nonsynonymous SNV

NM_001105567
NM_001105568
NM_001105566
NM_022113

c.T4655C
c.T4655C
c.T4694C
c.T4799C

p.F1552S
p.F1552S
p.F1565S
p.F1600S

26.8

Leblond2019 E

KIF13A

5-0129-003

chr6:
17979253-17979253

C

T

intronic

De novo

-

-

Yuen2017 G

KIF13A

1-0400-003

chr6:
18009478-18009478

G

A

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

KIF13A

2-1093-009

chr6:
17831756-17831756

T

C

intronic

De novo

-

-

Yuen2017 G

KIF13A

1-0408-003

chr6:
17908797-17908797

C

T

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

KIF13A

PN400220

chr6:
17764960-17764960

A

G

exonic

Unknown, Inherited

nonsynonymous SNV

NM_001105567
NM_001105568
NM_001105566
NM_022113

c.T4655C
c.T4655C
c.T4694C
c.T4799C

p.F1552S
p.F1552S
p.F1565S
p.F1600S

26.8

Leblond2019 E
Leblond2019 E

KIF13A

AU076704

chr6:
18047099-18047099

A

T

intergenic

De novo

-

-

Yuen2017 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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