Variant Results

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or

Results for "KIF17"

Variant Events: 15

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

KIF17

2-1373-003

chr1:
21025885-21025885

C

T

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

KIF17

7-0469-003

chr1:
21025384-21025384

G

A

intronic

De novo

-

-

Trost2022 G

KIF17

3-0185-000

chr1:
21040279-21040279

T

C

intronic

De novo

-

-

Yuen2017 G

KIF17

2-1280-003

chr1:
21021629-21021632

ACGC

AC

intronic

De novo

-

-

Yuen2017 G

KIF17

1-0405-003

chr1:
21016126-21016126

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

KIF17

iHART1199

chr1:
21039945-21039945

A

T

splicing

Paternal

splicing

19.2

Ruzzo2019 G

KIF17

2-1129-003

chr1:
21028739-21028739

C

G

intronic

De novo

-

-

Trost2022 G
Yuen2016 G
Yuen2017 G

KIF17

7-0469-003

chr1:
21026465-21026465

G

C

intronic

De novo

-

-

Trost2022 G

KIF17

13274.p1

chr1:
21031010-21031010

G

A

exonic

Mosaic

synonymous SNV

NM_001122819
NM_001287212
NM_020816

c.C1053T
c.C753T
c.C1053T

p.R351R
p.R251R
p.R351R

-

Krupp2017 E

KIF17

PN400532

chr1:
21031146-21031146

G

A

exonic

De novo

nonsynonymous SNV

NM_001122819
NM_001287212
NM_020816

c.C917T
c.C617T
c.C917T

p.T306M
p.T206M
p.T306M

26.9

Leblond2019 E

KIF17

PN400341

chr1:
20998545-20998545

T

A

exonic

Unknown

nonsynonymous SNV

NM_001122819
NM_001287212
NM_020816

c.A2608T
c.A2308T
c.A2608T

p.R870W
p.R770W
p.R870W

23.8

Leblond2019 E

KIF17

SSC07553

chr1:
21011431-21011431

A

C

exonic

De novo

nonsynonymous SNV

NM_001122819
NM_001287212
NM_020816

c.T2102G
c.T1802G
c.T2102G

p.V701G
p.V601G
p.V701G

8.947

-

Fu2022 E

KIF17

7-0168-003

chr1:
21040547-21040547

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

KIF17

mAGRE1199

chr1:
21039945-21039945

A

T

splicing

Paternal

splicing

19.2

Cirnigliaro2023 G

KIF17

mAGRE5716

chr1:
20991094-20991095

CA

C

exonic

Maternal

frameshift deletion

NM_001122819
NM_001287212
NM_020816

c.3069delT
c.2772delT
c.3072delT

p.F1023fs
p.F924fs
p.F1024fs

-

-

Cirnigliaro2023 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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