Variant Results

or

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Results for "KIF3C"

Variant Events: 19

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

KIF3C

1-0286-004

chr2:
26241850-26241850

A

G

intergenic

De novo

-

-

Yuen2017 G

KIF3C

1-0336-003

chr2:
26194679-26194679

C

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

KIF3C

2-1399-003

chr2:
26250870-26250870

T

A

intergenic

De novo

-

-

Yuen2017 G

KIF3C

2-0019-004

chr2:
26151538-26151538

C

T

UTR3

De novo

-

-

Trost2022 G
Yuen2017 G

KIF3C

MSSNG00199-003

chr2:
26165996-26165996

C

T

intronic

De novo

-

-

Trost2022 G

KIF3C

2-0272-004

chr2:
26165881-26165881

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

KIF3C

MSSNG00379-003

chr2:
26153039-26153039

G

C

intronic

De novo

-

-

Trost2022 G

KIF3C

SP0053276

chr2:
26177137-26177137

T

G

exonic

De novo

nonsynonymous SNV

NM_002254

c.A1888C

p.K630Q

14.07

-

Trost2022 G

KIF3C

4-0062-003

chr2:
26171141-26171142

AG

TC

intronic

De novo

-

-

Trost2022 G

KIF3C

SP0070251

chr2:
26204181-26204181

C

T

exonic

De novo

synonymous SNV

NM_002254

c.G606A

p.R202R

-

-

Fu2022 E
Trost2022 G
Zhou2022 GE

KIF3C

3-0650-000

chr2:
26204637-26204637

G

A

exonic

De novo

synonymous SNV

NM_002254

c.C150T

p.A50A

-

-

Trost2022 G
Zhou2022 GE

KIF3C

1-0186-004

chr2:
26217069-26217069

G

A

intergenic

De novo

-

-

Yuen2017 G

KIF3C

DEASD_0016_001

chr2:
26203250-26203250

T

C

exonic

De novo

nonsynonymous SNV

NM_002254

c.A1537G

p.K513E

15.55

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

KIF3C

REACH000173

chr2:
26200482-26200482

G

A

intronic

De novo

-

-

Trost2022 G

KIF3C

1-1206-003

chr2:
26198744-26198744

G

A

intronic

De novo

-

-

Trost2022 G

KIF3C

AU072504

chr2:
26162337-26162337

G

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

KIF3C

AU3997302

chr2:
26220414-26220414

C

A

intergenic

De novo

-

-

Yuen2017 G

KIF3C

09C99711

chr2:
26203995-26203995

T

TG

exonic

De novo

frameshift insertion

NM_002254

c.791dupC

p.A264fs

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

KIF3C

A16

chr2:
26238185-26238185

T

C

intergenic

De novo

-

-

Wu2018 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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