Variant Results

or

or

Results for "NCK2"

Variant Events: 22

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

NCK2

AU3702307

chr2:
106437585-106437585

A

C

intronic

De novo

-

-

Yuen2017 G

NCK2

1-0274-003

chr2:
106675892-106675892

C

T

intergenic

De novo

-

-

Yuen2017 G

NCK2

2-0238-004

chr2:
106576479-106576479

C

T

intergenic

De novo

-

-

Yuen2017 G

NCK2

2-1391-004

chr2:
106446595-106446595

C

T

intronic

De novo

-

-

Yuen2017 G

NCK2

7-0188-003

chr2:
106498491-106498491

G

C

exonic

De novo

nonsynonymous SNV

NM_001004720
NM_003581

c.G934C
c.G934C

p.D312H
p.D312H

26.6

Yuen2017 G

NCK2

2-1506-003

chr2:
106493378-106493378

G

A

intronic

De novo

-

-

Yuen2017 G

NCK2

2-1689-003

chr2:
106392664-106392664

C

T

intronic

De novo

-

-

Yuen2017 G

NCK2

AU2215302

chr2:
106473219-106473219

A

T

intronic

De novo

-

-

Yuen2017 G

NCK2

iHART3026

chr2:
106509613-106509613

T

TCGTCAGGGCCCTGCAGTGA

exonic

Paternal

stopgain

NM_001004720
NM_003581

c.1124_1125insCGTCAGGGCCCTGCAGTGA
c.1124_1125insCGTCAGGGCCCTGCAGTGA

p.L375_V376delinsLVRALQX
p.L375_V376delinsLVRALQX

-

-

Ruzzo2019 G

NCK2

2-1509-003

chr2:
106586073-106586073

G

A

intergenic

De novo

-

-

Yuen2017 G

NCK2

A4

chr2:
106396467-106396467

A

G

intronic

De novo

-

-

Wu2018 G

NCK2

AU2019302

chr2:
106561510-106561510

C

T

intergenic

De novo

-

-

Yuen2017 G

NCK2

1-0274-004

chr2:
106675892-106675892

C

T

intergenic

De novo

-

-

Yuen2017 G

NCK2

7-0100-004

chr2:
106656685-106656685

A

T

intergenic

De novo

-

-

Yuen2017 G

NCK2

3-0312-000

chr2:
106471675-106471675

G

A

exonic

De novo

synonymous SNV

NM_001004720
NM_001004722
NM_003581

c.G156A
c.G156A
c.G156A

p.P52P
p.P52P
p.P52P

-

Tammimies2015 E

NCK2

AU4250301

chr2:
106560879-106560879

G

C

intergenic

De novo

-

-

Yuen2017 G

NCK2

AU012804

chr2:
106526424-106526424

G

A

intergenic

De novo

-

-

Yuen2017 G

NCK2

AU4211304

chr2:
106422974-106422974

C

T

intronic

De novo

-

-

Yuen2017 G

NCK2

SP0012773

chr2:
106509563-106509563

C

T

exonic

De novo

synonymous SNV

NM_001004720
NM_003581

c.C1074T
c.C1074T

p.H358H
p.H358H

-

-

Fu2022 E

NCK2

1-0336-004

chr2:
106374093-106374093

C

G

intronic

De novo

-

-

Yuen2017 G

NCK2

AU3721302

chr2:
106660371-106660371

C

A

intergenic

De novo

-

-

Yuen2017 G

NCK2

SP0131089

chr2:
106497823-106497823

C

T

exonic

De novo

nonsynonymous SNV

NM_001004720
NM_003581

c.C266T
c.C266T

p.A89V
p.A89V

15.99

-

Fu2022 E

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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