Variant Results

or

Results for "NEK1"

Variant Events: 31

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

NEK1

MSSNG00402-003

chr4:
170329682-170329682

G

A

intronic

De novo

-

Trost2022 G

NEK1

iHART1894

chr4:
170509870-170509870

G

A

exonic

Unknown

stopgain

NM_001199400
NM_012224
NM_001199397
NM_001199398
NM_001199399

c.C481T
c.C481T
c.C481T
c.C481T
c.C481T

p.R161X
p.R161X
p.R161X
p.R161X
p.R161X

43.0

2.0E-4

Ruzzo2019 G

NEK1

7-0416-003

chr4:
170356494-170356494

T

C

intronic

De novo

-

Trost2022 G

NEK1

2-0033-003

chr4:
170345666-170345666

C

T

intronic

De novo

-

1.908E-5

Trost2022 G
Yuen2016 G
Yuen2017 G

NEK1

2-1436-003

chr4:
170396681-170396681

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

NEK1

Kim2020:B11

chr4:
170523693-170523693

T

C

exonic

De novo

nonsynonymous SNV

NM_001199400
NM_012224
NM_001199397
NM_001199398
NM_001199399

c.A89G
c.A89G
c.A89G
c.A89G
c.A89G

p.Y30C
p.Y30C
p.Y30C
p.Y30C
p.Y30C

18.4

-

Kim2020 E

NEK1

iHART1891

chr4:
170509870-170509870

G

A

exonic

Unknown

stopgain

NM_001199400
NM_012224
NM_001199397
NM_001199398
NM_001199399

c.C481T
c.C481T
c.C481T
c.C481T
c.C481T

p.R161X
p.R161X
p.R161X
p.R161X
p.R161X

43.0

2.0E-4

Ruzzo2019 G

NEK1

SJD_14.3

chr4:
170442959-170442959

G

T

intronic

De novo

-

Trost2022 G

NEK1

2-1254-003

chr4:
170428888-170428888

C

T

exonic

Paternal

nonsynonymous SNV

NM_001199399
NM_001199400
NM_012224
NM_001199398
NM_001199397

c.G1598A
c.G1673A
c.G1805A
c.G1757A
c.G1889A

p.R533H
p.R558H
p.R602H
p.R586H
p.R630H

15.53

4.99E-5

Yuen2016 G

NEK1

MSSNG00354-004

chr4:
170469493-170469493

C

T

intronic

De novo

-

Trost2022 G

NEK1

SP0038765

chr4:
170520332-170520332

G

A

exonic

De novo

synonymous SNV

NM_001199400
NM_012224
NM_001199397
NM_001199398
NM_001199399

c.C231T
c.C231T
c.C231T
c.C231T
c.C231T

p.Y77Y
p.Y77Y
p.Y77Y
p.Y77Y
p.Y77Y

-

Fu2022 E
Trost2022 G
Zhou2022 GE

NEK1

AU2697301

chr4:
170424955-170424955

G

A

intronic

De novo

-

Trost2022 G

NEK1

REACH000586

chr4:
170433247-170433247

A

C

intronic

De novo

-

Trost2022 G

NEK1

7-0094-004

chr4:
170405432-170405432

C

T

intronic

De novo

-

Trost2022 G

NEK1

3-0534-000

chr4:
170422842-170422842

T

A

intronic

De novo

-

Trost2022 G

NEK1

7-0059-003

chr4:
170356939-170356940

CG

AT

intronic

De novo

-

Trost2022 G

NEK1

MSSNG00030-003

chr4:
170402155-170402155

T

C

intronic

De novo

-

Trost2022 G

NEK1

mAGRE1894

chr4:
170509870-170509870

G

A

exonic

Unknown

stopgain

NM_001199400
NM_012224
NM_001199397
NM_001199398
NM_001199399

c.C481T
c.C481T
c.C481T
c.C481T
c.C481T

p.R161X
p.R161X
p.R161X
p.R161X
p.R161X

43.0

2.0E-4

Cirnigliaro2023 G

NEK1

mAGRE1891

chr4:
170509870-170509870

G

A

exonic

Unknown

stopgain

NM_001199400
NM_012224
NM_001199397
NM_001199398
NM_001199399

c.C481T
c.C481T
c.C481T
c.C481T
c.C481T

p.R161X
p.R161X
p.R161X
p.R161X
p.R161X

43.0

2.0E-4

Cirnigliaro2023 G

NEK1

mAGRE4370

chr4:
170430004-170430004

C

T

splicing

Maternal

splicing

14.78

-

Cirnigliaro2023 G

NEK1

REACH000239

chr4:
170529984-170529984

C

T

intronic

De novo

-

Trost2022 G

NEK1

mAGRE5264

chr4:
170429397-170429397

A

G

splicing

Paternal

splicing

13.34

-

Cirnigliaro2023 G

NEK1

3-0061-000

chr4:
170534600-170534600

C

A

upstream

De novo

-

Trost2022 G

NEK1

mAGRE4975

chr4:
170398582-170398582

C

CT

splicing

Paternal

splicing

-

Cirnigliaro2023 G

NEK1

7-0198-003

chr4:
170472993-170472993

A

C

intronic

De novo

-

Trost2022 G

NEK1

mAGRE4974

chr4:
170398582-170398582

C

CT

splicing

Paternal

splicing

-

Cirnigliaro2023 G

NEK1

AUTPGX_1017

chr4:
170511525-170511525

T

C

intronic

De novo

-

Trost2022 G

NEK1

AU3782302

chr4:
170324800-170324800

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

NEK1

7-0059-003

chr4:
170529931-170529931

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

NEK1

AU2569301

chr4:
170517428-170517428

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

NEK1

AU4015302

chr4:
170462664-170462664

C

A

intronic

De novo

-

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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