Variant Results

or

Results for "KIF5C"

Variant Events: 62

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

KIF5C

3-0458-000

chr2:
149833323-149833323

G

A

intronic

De novo

-

Yuen2016 G

KIF5C

Li2017:20736

chr2:
149866772-149866772

C

T

exonic

Unknown

nonsynonymous SNV

NM_004522

c.C2674T

p.R892W

20.9

-

Li2017 T

KIF5C

TAS_F8030Y

chr2:
149835519-149835519

A

AT

intronic

De novo

-

Satterstrom2020 E

KIF5C

PN400393

chr2:
149806440-149806440

G

T

exonic

Unknown

nonsynonymous SNV

NM_004522

c.G802T

p.A268S

33.0

8.154E-5

Leblond2019 E

KIF5C

1-0352-005

chr2:
149688016-149688016

A

G

intronic

De novo

-

Yuen2017 G

KIF5C

1-0006-003

chr2:
149660978-149660978

C

T

intronic

De novo

-

Yuen2017 G

KIF5C

PN400273

chr2:
149806440-149806440

G

T

exonic

Unknown

nonsynonymous SNV

NM_004522

c.G802T

p.A268S

33.0

8.154E-5

Leblond2019 E

KIF5C

PN400543

chr2:
149806440-149806440

G

T

exonic

Unknown

nonsynonymous SNV

NM_004522

c.G802T

p.A268S

33.0

8.154E-5

Leblond2019 E

KIF5C

PN400260

chr2:
149806440-149806440

G

T

exonic

Unknown

nonsynonymous SNV

NM_004522

c.G802T

p.A268S

33.0

8.154E-5

Leblond2019 E

KIF5C

PN400524

chr2:
149806440-149806440

G

T

exonic

Unknown

nonsynonymous SNV

NM_004522

c.G802T

p.A268S

33.0

8.154E-5

Leblond2019 E

KIF5C

Li2017:19574

chr2:
149853826-149853826

C

T

exonic

Unknown

nonsynonymous SNV

NM_004522

c.C2072T

p.T691M

23.2

8.316E-6

Li2017 T

KIF5C

PN400499

chr2:
149806440-149806440

G

T

exonic

Unknown

nonsynonymous SNV

NM_004522

c.G802T

p.A268S

33.0

8.154E-5

Leblond2019 E

KIF5C

PN400341

chr2:
149806440-149806440

G

T

exonic

Unknown

nonsynonymous SNV

NM_004522

c.G802T

p.A268S

33.0

8.154E-5

Leblond2019 E

KIF5C

PN400195

chr2:
149806440-149806440

G

T

exonic

Unknown

nonsynonymous SNV

NM_004522

c.G802T

p.A268S

33.0

8.154E-5

Leblond2019 E

KIF5C

PN400125

chr2:
149806440-149806440

G

T

exonic

Unknown

nonsynonymous SNV

NM_004522

c.G802T

p.A268S

33.0

8.154E-5

Leblond2019 E

KIF5C

PN400220

chr2:
149806440-149806440

G

T

exonic

Unknown

nonsynonymous SNV

NM_004522

c.G802T

p.A268S

33.0

8.154E-5

Leblond2019 E

KIF5C

09C86230

chr2:
149679797-149679797

G

A

splicing

Unknown

splicing

27.7

-

Wang2020 T
Wang2020 T

KIF5C

05C43772

chr2:
149679779-149679779

C

T

exonic

Unknown

nonsynonymous SNV

NM_004522

c.C200T

p.A67V

31.0

-

Wang2020 T
Wang2020 T

KIF5C

1-0534-006

chr2:
149814116-149814116

A

AAC

intronic

De novo

-

Yuen2017 G

KIF5C

PN400369

chr2:
149806440-149806440

G

T

exonic

Unknown

nonsynonymous SNV

NM_004522

c.G802T

p.A268S

33.0

8.154E-5

Leblond2019 E

KIF5C

AU2123301

chr2:
149806544-149806544

G

A

intronic

De novo

-

Yuen2017 G

KIF5C

2-1485-003

chr2:
149852273-149852273

C

G

intronic

De novo

-

Yuen2017 G

KIF5C

PN400282

chr2:
149806440-149806440

G

T

exonic

Unknown

nonsynonymous SNV

NM_004522

c.G802T

p.A268S

33.0

8.154E-5

Leblond2019 E

KIF5C

AU3368303

chr2:
149658358-149658358

T

C

intronic

De novo

-

Yuen2017 G

KIF5C

PN400544

chr2:
149806440-149806440

G

T

exonic

Unknown

nonsynonymous SNV

NM_004522

c.G802T

p.A268S

33.0

8.154E-5

Leblond2019 E

KIF5C

AU3712301

chr2:
149820979-149820979

G

A

intronic

De novo

-

Yuen2017 G

KIF5C

PN400412

chr2:
149806440-149806440

G

T

exonic

Unknown

nonsynonymous SNV

NM_004522

c.G802T

p.A268S

33.0

8.154E-5

Leblond2019 E

KIF5C

78887023

chr2:
149847617-149847617

C

T

exonic

Unknown

nonsynonymous SNV

NM_004522

c.C1810T

p.R604C

28.1

2.531E-5

Wang2020 T
Wang2020 T

KIF5C

Li2017:19764

chr2:
149868146-149868146

G

A

exonic

Unknown

nonsynonymous SNV

NM_004522

c.G2830A

p.G944R

25.6

1.657E-5

Li2017 T

KIF5C

AU4315302

chr2:
149799337-149799337

G

A

intronic

De novo

-

Yuen2017 G

KIF5C

PN400261

chr2:
149806440-149806440

G

T

exonic

Unknown

nonsynonymous SNV

NM_004522

c.G802T

p.A268S

33.0

8.154E-5

Leblond2019 E

KIF5C

PN400575

chr2:
149806440-149806440

G

T

exonic

Unknown

nonsynonymous SNV

NM_004522

c.G802T

p.A268S

33.0

8.154E-5

Leblond2019 E

KIF5C

PN400119

chr2:
149806440-149806440

G

T

exonic

Unknown

nonsynonymous SNV

NM_004522

c.G802T

p.A268S

33.0

8.154E-5

Leblond2019 E

KIF5C

63620629

chr2:
149806406-149806406

T

C

exonic

Unknown

synonymous SNV

NM_004522

c.T768C

p.N256N

-

8.615E-6

Wang2020 T
Wang2020 T
Wang2020 T

KIF5C

1-0219-003

chr2:
149790724-149790724

C

CT

intronic

De novo

-

Yuen2017 G

KIF5C

AU3955303

chr2:
149806864-149806864

C

T

exonic

De novo

nonsynonymous SNV

NM_004522

c.C856T

p.R286W

23.9

-

Wang2020 T
Yuen2017 G

KIF5C

PN400533

chr2:
149806440-149806440

G

T

exonic

Unknown

nonsynonymous SNV

NM_004522

c.G802T

p.A268S

33.0

8.154E-5

Leblond2019 E

KIF5C

SP0020473

chr2:
149855020-149855020

G

A

exonic

De novo

nonsynonymous SNV

NM_004522

c.G2207A

p.R736Q

14.18

-

Feliciano2019 E

KIF5C

Z8T5M

chr2:
149851025-149851025

G

A

exonic

Unknown

nonsynonymous SNV

NM_004522

c.G1996A

p.E666K

33.0

-

Wang2020 T
Wang2020 T
Wang2020 T

KIF5C

A20

chr2:
149800359-149800359

G

T

intronic

De novo

-

Wu2018 G

KIF5C

PN400283

chr2:
149806440-149806440

G

T

exonic

Unknown

nonsynonymous SNV

NM_004522

c.G802T

p.A268S

33.0

8.154E-5

Leblond2019 E

KIF5C

07C69441

chr2:
149851025-149851025

G

A

exonic

Unknown

nonsynonymous SNV

NM_004522

c.G1996A

p.E666K

33.0

-

Wang2020 T
Wang2020 T

KIF5C

09C98436

chr2:
149806406-149806406

T

C

exonic

Unknown

synonymous SNV

NM_004522

c.T768C

p.N256N

-

8.615E-6

Wang2020 T
Wang2020 T

KIF5C

2-0202-004

chr2:
149790681-149790681

A

AC

intronic

De novo

-

Yuen2017 G

KIF5C

1-0278-003

chr2:
149654408-149654408

C

T

intronic

De novo

-

Yuen2016 G

KIF5C

PN400507

chr2:
149806440-149806440

G

T

exonic

Unknown

nonsynonymous SNV

NM_004522

c.G802T

p.A268S

33.0

8.154E-5

Leblond2019 E

KIF5C

1-0352-003

chr2:
149688016-149688016

A

G

intronic

De novo

-

Yuen2016 G

KIF5C

PN400179

chr2:
149806440-149806440

G

T

exonic

Unknown

nonsynonymous SNV

NM_004522

c.G802T

p.A268S

33.0

8.154E-5

Leblond2019 E

KIF5C

PN400407

chr2:
149806440-149806440

G

T

exonic

Unknown

nonsynonymous SNV

NM_004522

c.G802T

p.A268S

33.0

8.154E-5

Leblond2019 E

KIF5C

GD0218.p1

chr2:
149847631-149847631

C

T

exonic

Paternal

synonymous SNV

NM_004522

c.C1824T

p.L608L

-

3.358E-5

Wang2020 T
Wang2020 T

KIF5C

PN400564

chr2:
149806440-149806440

G

T

exonic

Unknown

nonsynonymous SNV

NM_004522

c.G802T

p.A268S

33.0

8.154E-5

Leblond2019 E

KIF5C

HEN0155.p1

chr2:
149866772-149866772

C

T

exonic

Paternal

nonsynonymous SNV

NM_004522

c.C2674T

p.R892W

20.9

-

Wang2020 T
Wang2020 T

KIF5C

PN400542

chr2:
149806440-149806440

G

T

exonic

Unknown

nonsynonymous SNV

NM_004522

c.G802T

p.A268S

33.0

8.154E-5

Leblond2019 E

KIF5C

PN400312

chr2:
149806440-149806440

G

T

exonic

Unknown

nonsynonymous SNV

NM_004522

c.G802T

p.A268S

33.0

8.154E-5

Leblond2019 E

KIF5C

1-0559-004

chr2:
149790724-149790724

C

CT

intronic

De novo

-

Yuen2017 G

KIF5C

PN400498

chr2:
149806440-149806440

G

T

exonic

Unknown

nonsynonymous SNV

NM_004522

c.G802T

p.A268S

33.0

8.154E-5

Leblond2019 E

KIF5C

PN400113

chr2:
149806440-149806440

G

T

exonic

Unknown

nonsynonymous SNV

NM_004522

c.G802T

p.A268S

33.0

8.154E-5

Leblond2019 E

KIF5C

Li2017:28507

chr2:
149840197-149840197

A

G

exonic

Unknown

nonsynonymous SNV

NM_004522

c.A1633G

p.K545E

33.0

-

Li2017 T

KIF5C

AU4033303

chr2:
149646955-149646955

G

C

intronic

De novo

-

Yuen2017 G

KIF5C

14532.p1

chr2:
149861884-149861884

T

G

intronic

De novo

-

Krumm2015 E
Satterstrom2020 E

KIF5C

2-1485-004

chr2:
149852273-149852273

C

G

intronic

De novo

-

Yuen2017 G

KIF5C

PN400246

chr2:
149806440-149806440

G

T

exonic

Unknown

nonsynonymous SNV

NM_004522

c.G802T

p.A268S

33.0

8.154E-5

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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