Variant Results

or

Results for "NCKAP1"

Variant Events: 57

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

NCKAP1

SF0044364.p1

chr2:
183848019-183848019

G

T

exonic

nonsynonymous SNV

NM_013436
NM_205842

c.C1096A
c.C1114A

p.P366T
p.P372T

26.6

-

Wang2020 T

NCKAP1

SF0044376.p1

chr2:
183821232-183821232

G

A

exonic

nonsynonymous SNV

NM_013436
NM_205842

c.C2111T
c.C2129T

p.P704L
p.P710L

29.9

-

Wang2020 T

NCKAP1

B8C8D

chr2:
183841656-183841656

A

T

exonic

Inherited

nonsynonymous SNV

NM_013436
NM_205842

c.T1447A
c.T1465A

p.F483I
p.F489I

34.0

-

Stessman2017 T

NCKAP1

Uddin2014:53

chr2:
183791570-183791570

C

A

exonic

De novo

stopgain

NM_013436
NM_205842

c.G3244T
c.G3262T

p.E1082X
p.E1088X

48.0

-

Uddin2014 E

NCKAP1

5-0073-003

chr2:
183907296-183907296

G

T

intergenic

De novo

-

Yuen2017 G

NCKAP1

SSC06366

chr2:
183791570-183791570

C

A

exonic

De novo

stopgain

NM_013436
NM_205842

c.G3244T
c.G3262T

p.E1082X
p.E1088X

48.0

-

Antaki2022 GE
Fu2022 E
Lim2017 E
Trost2022 G

NCKAP1

Iowa_125_3_a.2.1

chr2:
183822200-183822200

C

G

exonic

Unknown

nonsynonymous SNV

NM_013436
NM_205842

c.G2006C
c.G2024C

p.R669T
p.R675T

28.0

-

Wang2020 T

NCKAP1

HEN0090.p1

chr2:
183868002-183868002

C

T

exonic

Maternal

nonsynonymous SNV

NM_013436
NM_205842

c.G271A
c.G289A

p.A91T
p.A97T

13.33

1.687E-5

Guo2018 T

NCKAP1

SX0013.p1

chr2:
183888587-183888587

C

A

exonic

Maternal

nonsynonymous SNV

NM_013436
NM_205842

c.G166T
c.G184T

p.A56S
p.A62S

9.708

2.474E-5

Guo2018 T

NCKAP1

Greenwood_Cms23890

chr2:
183848088-183848088

G

A

exonic

Unknown

nonsynonymous SNV

NM_013436
NM_205842

c.C1027T
c.C1045T

p.R343C
p.R349C

23.0

1.649E-5

Wang2020 T

NCKAP1

Greenwood_Cms23002a

chr2:
183848088-183848088

G

A

exonic

Unknown

nonsynonymous SNV

NM_013436
NM_205842

c.C1027T
c.C1045T

p.R343C
p.R349C

23.0

1.649E-5

Wang2020 T

NCKAP1

2-1265-003

chr2:
183828377-183828377

A

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

NCKAP1

SSC10447

chr2:
183866861-183866861

C

CCA

exonic

De novo

frameshift insertion

NM_013436
NM_205842

c.505_506insTG
c.523_524insTG

p.G169fs
p.G175fs

-

Antaki2022 GE
Trost2022 G

NCKAP1

SP0044376

chr2:
183821232-183821232

G

A

exonic

De novo

nonsynonymous SNV

NM_013436
NM_205842

c.C2111T
c.C2129T

p.P704L
p.P710L

29.9

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

NCKAP1

12764.p1

chr2:
183791570-183791570

C

A

exonic

De novo

stopgain

NM_013436
NM_205842

c.G3244T
c.G3262T

p.E1082X
p.E1088X

48.0

-

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2014 T
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
Willsey2013 E
Zhou2022 GE

NCKAP1

SP0044364

chr2:
183848019-183848019

G

T

exonic

De novo

nonsynonymous SNV

NM_013436
NM_205842

c.C1096A
c.C1114A

p.P366T
p.P372T

26.6

-

Fu2022 E
Zhou2022 GE

NCKAP1

SanDiego_B8C8D

chr2:
183841656-183841656

A

T

exonic

Unknown

nonsynonymous SNV

NM_013436
NM_205842

c.T1447A
c.T1465A

p.F483I
p.F489I

34.0

-

Wang2020 T

NCKAP1

Leuven_218350

chr2:
183817938-183817939

TC

T

exonic

Unknown

frameshift deletion

NM_013436
NM_205842

c.2274delG
c.2292delG

p.Q758fs
p.Q764fs

-

Wang2020 T

NCKAP1

11456.p1

chr2:
183922233-183922233

G

A

intergenic

De novo

-

Turner2016 G

NCKAP1

M23209

chr2:
183792844-183792844

C

T

splicing

De novo

splicing

24.2

-

Guo2018 T
Stessman2017 T
Wang2016 T

NCKAP1

AU038203

chr2:
183814329-183814329

A

G

intronic

De novo

-

Yuen2017 G

NCKAP1

ACGC_M23209

chr2:
183792844-183792844

C

T

splicing

De novo

splicing

24.2

-

Wang2020 T

NCKAP1

GX0233.p1

chr2:
183866975-183866975

T

C

exonic

Maternal

nonsynonymous SNV

NM_013436
NM_205842

c.A392G
c.A410G

p.K131R
p.K137R

8.915

-

Guo2018 T

NCKAP1

GX0529.p2

chr2:
183867972-183867972

T

C

exonic

Maternal

nonsynonymous SNV

NM_013436
NM_205842

c.A301G
c.A319G

p.M101V
p.M107V

13.92

3.577E-5

Guo2018 T

NCKAP1

14484_p1

chr2:
183866852-183866852

T

C

intronic

De novo

-

Fu2022 E

NCKAP1

1-0037-004

chr2:
183834987-183834987

A

G

intronic

De novo

-

Trost2022 G

NCKAP1

CC1147_201

chr2:
183848030-183848030

C

G

exonic

De novo

nonsynonymous SNV

NM_013436
NM_205842

c.G1085C
c.G1103C

p.G362A
p.G368A

22.9

-

Fu2022 E

NCKAP1

MSSNG00062-003

chr2:
183839309-183839309

A

G

intronic

De novo

-

Trost2022 G

NCKAP1

M15016

chr2:
183847654-183847654

G

A/G

exonic

Maternal

-

Guo2018 T

NCKAP1

REACH000058

chr2:
183810746-183810746

T

C

intronic

De novo

-

Trost2022 G

NCKAP1

M8997

chr2:
183867721-183867721

C

A

exonic

Maternal

nonsynonymous SNV

NM_013436
NM_205842

c.G350T
c.G368T

p.C117F
p.C123F

12.7

1.0E-4

Wang2016 T

NCKAP1

M15157

chr2:
183821280-183821280

G

C/G

exonic

Maternal

-

Guo2018 T

NCKAP1

5-5057-003

chr2:
183825711-183825711

C

T

intronic

De novo

-

Trost2022 G

NCKAP1

Leuven_312696

chr2:
183831969-183831969

C

T

exonic

Unknown

nonsynonymous SNV

NM_013436
NM_205842

c.G1603A
c.G1621A

p.E535K
p.E541K

35.0

-

Wang2020 T

NCKAP1

14484.p1

chr2:
183866852-183866852

T

C

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

NCKAP1

Leuven2_60079853

chr2:
183831969-183831969

C

T

exonic

Unknown

nonsynonymous SNV

NM_013436
NM_205842

c.G1603A
c.G1621A

p.E535K
p.E541K

35.0

-

Wang2020 T

NCKAP1

14030.p1

Complex Event; expand row to view variants

De novo

frameshift insertion

NM_013436
NM_205842
NM_013436
NM_205842

c.505_506insTG
c.523_524insTG
c.504_505insTG
c.522_523insTG

p.G169fs
p.G175fs
p.G169fs
p.G175fs

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2014 T
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
Zhou2022 GE

NCKAP1

REACH000249

chr2:
183880548-183880548

C

A

intronic

De novo

-

Trost2022 G

NCKAP1

SX0005.p1

chr2:
183846087-183846087

A

G

exonic

Paternal

nonsynonymous SNV

NM_013436
NM_205842

c.T1226C
c.T1244C

p.I409T
p.I415T

19.67

-

Guo2018 T

NCKAP1

2-0068-003

chr2:
183881669-183881669

C

T

intronic

De novo

-

Trost2022 G

NCKAP1

AUTPGX_1017

chr2:
183858471-183858471

C

A

intronic

De novo

-

Trost2022 G

NCKAP1

1004

chr2:
183865336-183865336

A

AT

intronic

De novo

-

Trost2022 G

NCKAP1

M12374

chr2:
183888601-183888601

T

C/T

exonic

Maternal

-

Guo2018 T

NCKAP1

AU2310301

chr2:
183844215-183844215

T

G

intronic

De novo

-

Trost2022 G

NCKAP1

M20719

chr2:
183853765-183853765

T

G/T

exonic

Maternal

-

Guo2018 T

NCKAP1

5-5022-003

chr2:
183846232-183846232

C

T

intronic

De novo

-

Trost2022 G

NCKAP1

7-0242-003

chr2:
183901181-183901181

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

NCKAP1

7-0256-003

chr2:
183890929-183890929

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

NCKAP1

REACH000323

chr2:
183840858-183840858

T

C

intronic

De novo

-

Trost2022 G

NCKAP1

M15157

chr2:
183888613-183888613

T

C/T

exonic

Maternal

-

Guo2018 T

NCKAP1

MSSNG00365-003

chr2:
183843056-183843056

T

C

intronic

De novo

-

Trost2022 G

NCKAP1

M23272

chr2:
183848038-183848038

A

C

exonic

Paternal

nonsynonymous SNV

NM_013436
NM_205842

c.T1077G
c.T1095G

p.D359E
p.D365E

18.46

-

Guo2018 T
Wang2016 T

NCKAP1

1-0183-004

chr2:
183898132-183898132

T

C

intronic

De novo

-

Trost2022 G

NCKAP1

M21513

chr2:
183867721-183867721

C

A

exonic

Paternal

nonsynonymous SNV

NM_013436
NM_205842

c.G350T
c.G368T

p.C117F
p.C123F

12.7

1.0E-4

Wang2016 T

NCKAP1

2-1297-003

chr2:
183918322-183918322

T

C

intergenic

De novo

-

Yuen2017 G

NCKAP1

AU1404301

chr2:
183802782-183802782

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

NCKAP1

1-0668-003

chr2:
183834193-183834193

A

G

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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