Variant Results

or

Results for "NUAK1"

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

NUAK1

SSC07552

chr12:
106461269-106461269

G

A

exonic

De novo

stopgain

NM_014840

c.C1297T

p.Q433X

48.0

-

Fu2022 E
Lim2017 E
Trost2022 G

NUAK1

Lim2017:36823

chr12:
106460608-106460608

G

A

exonic

De novo

nonsynonymous SNV

NM_014840

c.C1958T

p.A653V

33.0

5.075E-5

Lim2017 E

NUAK1

1-0885-003

chr12:
106469609-106469609

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

NUAK1

1-0533-003

chr12:
106558441-106558441

C

T

intergenic

De novo

-

Yuen2017 G

NUAK1

5-0088-003

chr12:
106474834-106474834

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

NUAK1

M19599

chr12:
106460608-106460608

G

A

exonic

Paternal

nonsynonymous SNV

NM_014840

c.C1958T

p.A653V

33.0

5.075E-5

Guo2018 T
Wang2016 T

NUAK1

2-1521-003

chr12:
106572243-106572243

C

T

intergenic

De novo

-

Yuen2017 G

NUAK1

AU4356302

chr12:
106486005-106486005

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

NUAK1

AU2156303

chr12:
106538417-106538417

T

C

intergenic

De novo

-

Yuen2017 G

NUAK1

14540.p1

chr12:
106460608-106460608

G

A

exonic

De novo

nonsynonymous SNV

NM_014840

c.C1958T

p.A653V

33.0

5.075E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2014 T
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

NUAK1

4-0096-003

chr12:
106487223-106487223

C

T

intronic

De novo

-

Trost2022 G

NUAK1

5-0076-003

chr12:
106527430-106527430

C

T

intronic

De novo

-

Trost2022 G

NUAK1

13349.p1

chr12:
106461269-106461269

G

A

exonic

De novo

stopgain

NM_014840

c.C1297T

p.Q433X

48.0

-

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2014 T
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E
Zhou2022 GE

NUAK1

12793.p1

chr12:
106576826-106576826

C

A

intergenic

De novo

-

Turner2016 G

NUAK1

M19749

chr12:
106480544-106480544

G

C

exonic

Maternal

nonsynonymous SNV

NM_014840

c.C481G

p.Q161E

35.0

-

Guo2018 T
Wang2016 T

NUAK1

1-0269-003

chr12:
106473239-106473239

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

NUAK1

5-0114-003

chr12:
106521645-106521645

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

NUAK1

2-1132-003

chr12:
106478387-106478387

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

NUAK1

36823

chr12:
106460608-106460608

G

A

exonic

De novo

nonsynonymous SNV

NM_014840

c.C1958T

p.A653V

33.0

5.075E-5

Fu2022 E
Trost2022 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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