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Results for "NCKAP1"

Variant Events: 58

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.p1chr2:
183848019-183848019
GTexonicnonsynonymous SNVNM_013436
NM_205842
c.C1096A
c.C1114A
p.P366T
p.P372T
26.6-Wang2020 T
NCKAP1     SF0044376.p1chr2:
183821232-183821232
GAexonicnonsynonymous SNVNM_013436
NM_205842
c.C2111T
c.C2129T
p.P704L
p.P710L
29.9-Wang2020 T
NCKAP1     B8C8Dchr2:
183841656-183841656
ATexonicInheritednonsynonymous SNVNM_013436
NM_205842
c.T1447A
c.T1465A
p.F483I
p.F489I
34.0-Stessman2017 T
NCKAP1     Uddin2014:53chr2:
183791570-183791570
CAexonicDe novostopgainNM_013436
NM_205842
c.G3244T
c.G3262T
p.E1082X
p.E1088X
48.0-Uddin2014 E
NCKAP1     5-0073-003chr2:
183907296-183907296
GTintergenicDe novo--Yuen2017 G
NCKAP1     SSC06366chr2:
183791570-183791570
CAexonicDe novostopgainNM_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.2.1chr2:
183822200-183822200
CGexonicUnknownnonsynonymous SNVNM_013436
NM_205842
c.G2006C
c.G2024C
p.R669T
p.R675T
28.0-Wang2020 T
NCKAP1     HEN0090.p1chr2:
183868002-183868002
CTexonicMaternalnonsynonymous SNVNM_013436
NM_205842
c.G271A
c.G289A
p.A91T
p.A97T
13.331.687E-5Guo2018 T
NCKAP1     SX0013.p1chr2:
183888587-183888587
CAexonicMaternalnonsynonymous SNVNM_013436
NM_205842
c.G166T
c.G184T
p.A56S
p.A62S
9.7082.474E-5Guo2018 T
NCKAP1     Greenwood_Cms23890chr2:
183848088-183848088
GAexonicUnknownnonsynonymous SNVNM_013436
NM_205842
c.C1027T
c.C1045T
p.R343C
p.R349C
23.01.649E-5Wang2020 T
NCKAP1     Greenwood_Cms23002achr2:
183848088-183848088
GAexonicUnknownnonsynonymous SNVNM_013436
NM_205842
c.C1027T
c.C1045T
p.R343C
p.R349C
23.01.649E-5Wang2020 T
NCKAP1     2-1265-003chr2:
183828377-183828377
AGintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
NCKAP1     SSC10447chr2:
183866861-183866861
CCCAexonicDe novoframeshift insertionNM_013436
NM_205842
c.505_506insTG
c.523_524insTG
p.G169fs
p.G175fs
--Antaki2022 GE
Chan2022 G
Trost2022 G
NCKAP1     SP0044376chr2:
183821232-183821232
GAexonicDe novononsynonymous SNVNM_013436
NM_205842
c.C2111T
c.C2129T
p.P704L
p.P710L
29.9-Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
NCKAP1     12764.p1chr2:
183791570-183791570
CAexonicDe novostopgainNM_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     SP0044364chr2:
183848019-183848019
GTexonicDe novononsynonymous SNVNM_013436
NM_205842
c.C1096A
c.C1114A
p.P366T
p.P372T
26.6-Fu2022 E
Zhou2022 GE
NCKAP1     SanDiego_B8C8Dchr2:
183841656-183841656
ATexonicUnknownnonsynonymous SNVNM_013436
NM_205842
c.T1447A
c.T1465A
p.F483I
p.F489I
34.0-Wang2020 T
NCKAP1     Leuven_218350chr2:
183817938-183817939
TCTexonicUnknownframeshift deletionNM_013436
NM_205842
c.2274delG
c.2292delG
p.Q758fs
p.Q764fs
--Wang2020 T
NCKAP1     11456.p1chr2:
183922233-183922233
GAintergenicDe novo--Turner2016 G
NCKAP1     M23209chr2:
183792844-183792844
CTsplicingDe novosplicing24.2-Guo2018 T
Stessman2017 T
Wang2016 T
NCKAP1     AU038203chr2:
183814329-183814329
AGintronicDe novo--Yuen2017 G
NCKAP1     ACGC_M23209chr2:
183792844-183792844
CTsplicingDe novosplicing24.2-Wang2020 T
NCKAP1     GX0233.p1chr2:
183866975-183866975
TCexonicMaternalnonsynonymous SNVNM_013436
NM_205842
c.A392G
c.A410G
p.K131R
p.K137R
8.915-Guo2018 T
NCKAP1     GX0529.p2chr2:
183867972-183867972
TCexonicMaternalnonsynonymous SNVNM_013436
NM_205842
c.A301G
c.A319G
p.M101V
p.M107V
13.923.577E-5Guo2018 T
NCKAP1     14484_p1chr2:
183866852-183866852
TCintronicDe novo--Fu2022 E
NCKAP1     1-0037-004chr2:
183834987-183834987
AGintronicDe novo--Trost2022 G
NCKAP1     CC1147_201chr2:
183848030-183848030
CGexonicDe novononsynonymous SNVNM_013436
NM_205842
c.G1085C
c.G1103C
p.G362A
p.G368A
22.9-Fu2022 E
NCKAP1     MSSNG00062-003chr2:
183839309-183839309
AGintronicDe novo--Trost2022 G
NCKAP1     M15016chr2:
183847654-183847654
GA/GexonicMaternal--Guo2018 T
NCKAP1     REACH000058chr2:
183810746-183810746
TCintronicDe novo--Trost2022 G
NCKAP1     M8997chr2:
183867721-183867721
CAexonicMaternalnonsynonymous SNVNM_013436
NM_205842
c.G350T
c.G368T
p.C117F
p.C123F
12.71.0E-4Wang2016 T
NCKAP1     M15157chr2:
183821280-183821280
GC/GexonicMaternal--Guo2018 T
NCKAP1     5-5057-003chr2:
183825711-183825711
CTintronicDe novo--Trost2022 G
NCKAP1     Leuven_312696chr2:
183831969-183831969
CTexonicUnknownnonsynonymous SNVNM_013436
NM_205842
c.G1603A
c.G1621A
p.E535K
p.E541K
35.0-Wang2020 T
NCKAP1     14484.p1chr2:
183866852-183866852
TCintronicDe novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
NCKAP1     Leuven2_60079853chr2:
183831969-183831969
CTexonicUnknownnonsynonymous SNVNM_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 novoframeshift insertionNM_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     REACH000249chr2:
183880548-183880548
CAintronicDe novo--Trost2022 G
NCKAP1     SX0005.p1chr2:
183846087-183846087
AGexonicPaternalnonsynonymous SNVNM_013436
NM_205842
c.T1226C
c.T1244C
p.I409T
p.I415T
19.67-Guo2018 T
NCKAP1     2-0068-003chr2:
183881669-183881669
CTintronicDe novo--Trost2022 G
NCKAP1     AUTPGX_1017chr2:
183858471-183858471
CAintronicDe novo--Trost2022 G
NCKAP1     1004chr2:
183865336-183865336
AATintronicDe novo--Trost2022 G
NCKAP1     M12374chr2:
183888601-183888601
TC/TexonicMaternal--Guo2018 T
NCKAP1     AU2310301chr2:
183844215-183844215
TGintronicDe novo--Trost2022 G
NCKAP1     M20719chr2:
183853765-183853765
TG/TexonicMaternal--Guo2018 T
NCKAP1     5-5022-003chr2:
183846232-183846232
CTintronicDe novo--Trost2022 G
NCKAP1     7-0242-003chr2:
183901181-183901181
AGintronicDe novo--Trost2022 G
Yuen2017 G
NCKAP1     7-0256-003chr2:
183890929-183890929
GAintronicDe novo--Trost2022 G
Yuen2017 G
NCKAP1     REACH000323chr2:
183840858-183840858
TCintronicDe novo--Trost2022 G
NCKAP1     M15157chr2:
183888613-183888613
TC/TexonicMaternal--Guo2018 T
NCKAP1     MSSNG00365-003chr2:
183843056-183843056
TCintronicDe novo--Trost2022 G
NCKAP1     M23272chr2:
183848038-183848038
ACexonicPaternalnonsynonymous SNVNM_013436
NM_205842
c.T1077G
c.T1095G
p.D359E
p.D365E
18.46-Guo2018 T
Wang2016 T
NCKAP1     1-0183-004chr2:
183898132-183898132
TCintronicDe novo--Trost2022 G
NCKAP1     M21513chr2:
183867721-183867721
CAexonicPaternalnonsynonymous SNVNM_013436
NM_205842
c.G350T
c.G368T
p.C117F
p.C123F
12.71.0E-4Wang2016 T
NCKAP1     3-0363-000chr2:
183902809-183902809
GAexonicDe novostopgainNM_013436
NM_205842
c.C19T
c.C19T
p.Q7X
p.Q7X
45.0-Chan2022 G
NCKAP1     2-1297-003chr2:
183918322-183918322
TCintergenicDe novo--Yuen2017 G
NCKAP1     AU1404301chr2:
183802782-183802782
CTintronicDe novo--Trost2022 G
Yuen2017 G
NCKAP1     1-0668-003chr2:
183834193-183834193
AGintronicDe novo--Trost2022 G
Yuen2017 G
Source Variant Information

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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
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