Variant Results

or

Results for "NCKAP5"

Variant Events: 46

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

NCKAP5

2-0273-003

chr2:
134869039-134869039

G

A

intergenic

De novo

-

Yuen2017 G

NCKAP5

AU008505

chr2:
134490832-134490832

C

A

intergenic

De novo

-

Yuen2017 G

NCKAP5

AU3698301

chr2:
134557721-134557721

T

C

intergenic

De novo

-

Yuen2017 G

NCKAP5

1-0051-005

chr2:
134399740-134399740

C

G

intergenic

De novo

-

Yuen2017 G

NCKAP5

13629.p1

chr2:
134259497-134259497

T

A

intronic

De novo

-

Werling2018 G

NCKAP5

2-1506-003

chr2:
134636527-134636527

C

T

intergenic

De novo

-

Yuen2017 G

NCKAP5

SP0058470

chr2:
133542018-133542018

G

A

exonic

De novo

nonsynonymous SNV

NM_207363

c.C2366T

p.S789L

0.037

-

Fu2022 E

NCKAP5

SP0087659

chr2:
133483271-133483271

A

T

exonic

De novo

nonsynonymous SNV

NM_207481
NM_207363

c.T1685A
c.T5642A

p.L562Q
p.L1881Q

12.2

-

Fu2022 E

NCKAP5

1-0466-003

chr2:
134298980-134298980

G

A

intronic

De novo

-

Yuen2017 G

NCKAP5

2-0122-003

chr2:
133505138-133505138

G

GAGGCCAAA

intronic

De novo

-

Yuen2017 G

NCKAP5

7-0166-003

chr2:
134880693-134880693

C

T

intergenic

De novo

-

Yuen2017 G

NCKAP5

SP0057160

chr2:
133542296-133542296

A

T

exonic

De novo

synonymous SNV

NM_207363

c.T2088A

p.I696I

-

Fu2022 E

NCKAP5

5-0014-003

chr2:
134735112-134735112

G

A

intergenic

De novo

-

Yuen2017 G

NCKAP5

2-1169-004

chr2:
133505134-133505134

T

A

intronic

De novo

-

Yuen2017 G

NCKAP5

2-0057-004

chr2:
134432559-134432559

A

T

intergenic

De novo

-

Yuen2017 G

NCKAP5

AU4129303

chr2:
134570438-134570438

A

C

intergenic

De novo

-

Yuen2017 G

NCKAP5

2-1215-003

chr2:
134395207-134395211

GGACA

G

intergenic

De novo

-

Yuen2017 G

NCKAP5

5-0030-003

chr2:
133450029-133450029

A

AT

intronic

De novo

-

Yuen2017 G

NCKAP5

AU3721301

chr2:
133429448-133429448

A

C

UTR3

De novo

-

Yuen2017 G

NCKAP5

2-1317-003

chr2:
134617710-134617710

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

NCKAP5

AU3913301

chr2:
134353964-134353964

C

A

intergenic

De novo

-

Yuen2017 G

NCKAP5

ASC_9238

chr2:
133542981-133542981

A

C

exonic

De novo

nonsynonymous SNV

NM_207363

c.T1403G

p.F468C

15.16

-

Fu2022 E

NCKAP5

1-0359-003

chr2:
134778414-134778414

T

C

intergenic

De novo

-

Yuen2017 G

NCKAP5

13298.p1

chr2:
134603343-134603343

A

T

intergenic

De novo

-

Turner2016 G

NCKAP5

7-0067-003

chr2:
134337551-134337551

A

G

intergenic

De novo

-

Yuen2017 G

NCKAP5

AU1223303

chr2:
134819049-134819049

A

G

intergenic

De novo

-

Yuen2017 G

NCKAP5

1-0534-006

chr2:
134317757-134317757

A

C

intronic

De novo

-

Yuen2017 G

NCKAP5

2-1459-003

chr2:
134660108-134660108

C

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

NCKAP5

AU015903

chr2:
133549327-133549327

C

T

intronic

De novo

-

Yuen2017 G

NCKAP5

3-0209-000

chr2:
133535933-133535933

T

C

intronic

De novo

-

Yuen2017 G

NCKAP5

1-0971-003

chr2:
134409515-134409515

G

A

intergenic

De novo

-

Yuen2017 G

NCKAP5

2-1741-003

chr2:
133510831-133510831

G

A

intronic

De novo

-

Yuen2017 G

NCKAP5

AU4462302

chr2:
134684637-134684644

ATTTTTTT

ATTTTTT

intergenic

De novo

-

Yuen2017 G

NCKAP5

2-1562-004

chr2:
134522663-134522663

A

C

intergenic

De novo

-

Yuen2017 G

NCKAP5

AU4263304

chr2:
134735826-134735826

G

C

intergenic

De novo

-

Yuen2017 G

NCKAP5

1-0332-003

chr2:
134826457-134826457

G

GA

intergenic

De novo

-

Yuen2017 G

NCKAP5

2-0045-003

chr2:
134553215-134553215

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

NCKAP5

AU0540301

chr2:
134554645-134554645

A

G

intergenic

De novo

-

Yuen2017 G

NCKAP5

1-0490-003

chr2:
134463911-134463911

G

T

intergenic

De novo

-

Yuen2017 G

NCKAP5

AU2248301

chr2:
134583929-134583929

C

T

intergenic

De novo

-

Yuen2017 G

NCKAP5

AU043804

chr2:
133489092-133489092

T

A

intronic

De novo

-

Yuen2017 G

NCKAP5

AU4145301

chr2:
134808034-134808034

T

C

intergenic

De novo

-

Yuen2017 G

NCKAP5

1-0606-003

chr2:
134315876-134315890

AGAGGAGGAGGAGGA

AGAGGAGGAGGA

intronic

De novo

-

Yuen2017 G

NCKAP5

SP0019702

chr2:
133542670-133542670

G

A

exonic

De novo

nonsynonymous SNV

NM_207363

c.C1714T

p.R572C

7.365

4.148E-5

Fu2022 E

NCKAP5

SP0028793

chr2:
133554239-133554239

G

A

exonic

De novo

stopgain

NM_207363
NM_207481

c.C871T
c.C871T

p.R291X
p.R291X

37.0

-

Fu2022 E

NCKAP5

2-0223-003

chr2:
133483189-133483189

C

A

intronic

De novo

-

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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