Variant Results

or

Results for "KIF14"

Variant Events: 12

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

KIF14

14357.p1

chr1:
200584483-200584483

G

A

exonic

De novo

nonsynonymous SNV

NM_014875

c.C1367T

p.T456M

31.0

-

Ji2016 E
Krumm2015 E
Satterstrom2020 E
Zhou2022 GE

KIF14

1-0551-003

chr1:
200586716-200586718

TAG

T

intronic

De novo

-

Trost2022 G

KIF14

11521.p1

chr1:
200587141-200587141

C

T

exonic

De novo

synonymous SNV

NM_014875

c.G711A

p.T237T

-

3.299E-5

Iossifov2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

KIF14

SSC11682

chr1:
200584483-200584483

G

A

exonic

De novo

nonsynonymous SNV

NM_014875

c.C1367T

p.T456M

31.0

-

Fu2022 E
Lim2017 E
Trost2022 G

KIF14

2-1567-003

chr1:
200580659-200580659

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIF14

MSSNG00096-003

chr1:
200582257-200582258

CT

C

intronic

De novo

-

Trost2022 G

KIF14

AU075207

chr1:
200567687-200567687

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIF14

MSSNG00408-003

chr1:
200551395-200551395

G

A

intronic

De novo

-

Trost2022 G

KIF14

SP0062596

chr1:
200534348-200534348

G

A

exonic

De novo

nonsynonymous SNV

NM_001305792
NM_014875

c.C2447T
c.C3920T

p.T816I
p.T1307I

8.954

-

Fu2022 E
Zhou2022 GE

KIF14

11521_p1

chr1:
200587141-200587141

C

T

exonic

De novo

synonymous SNV

NM_014875

c.G711A

p.T237T

-

3.299E-5

Fu2022 E

KIF14

AU2029303

chr1:
200539013-200539013

T

C

intronic

De novo

-

3.0E-4

Yuen2017 G

KIF14

AU2029302

chr1:
200539013-200539013

T

C

intronic

De novo

-

3.0E-4

Trost2022 G
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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