or
or
Exact

Results for "ANKRD11"

Variant Events: 66

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
ANKRD11     13875.p1chr16:
89346730-89346730
CAexonicDe novostopgainNM_001256183
NM_013275
NM_001256182
c.G6220T
c.G6220T
c.G6220T
p.E2074X
p.E2074X
p.E2074X
49.0-Lowther2023 G
Wilfert2021 G
Zhou2022 GE
ANKRD11     M20652chr16:
89357429-89357429
TCexonicPaternalnonsynonymous SNVNM_001256183
NM_013275
NM_001256182
c.A389G
c.A389G
c.A389G
p.N130S
p.N130S
p.N130S
34.05.125E-5Guo2018 T
Wang2016 T
ANKRD11     2-1292-003chr16:
89472903-89472903
CTintronicDe novo--Trost2022 G
Yuen2017 G
ANKRD11     Wang2023:613chr16:
89348325-89348329
TTTTCTexonicDe novoframeshift deletionNM_001256183
NM_013275
NM_001256182
c.4621_4624del
c.4621_4624del
c.4621_4624del
p.E1541fs
p.E1541fs
p.E1541fs
--Wang2023 E
ANKRD11     214-17075-1chr16:
89357054-89357054
CTexonicInheritednonsynonymous SNVNM_001256183
NM_013275
NM_001256182
c.G580A
c.G580A
c.G580A
p.V194I
p.V194I
p.V194I
36.01.659E-5Stessman2017 T
ANKRD11     AU066104chr16:
89382592-89382592
GAintronicDe novo--Trost2022 G
Yuen2017 G
ANKRD11     07C67708chr16:
89351461-89351461
CGexonicDe novononsynonymous SNVNM_001256183
NM_013275
NM_001256182
c.G1489C
c.G1489C
c.G1489C
p.G497R
p.G497R
p.G497R
9.7958.335E-6Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
ANKRD11     3-0438-000chr16:
89447934-89447934
TCintronicDe novo--Trost2022 G
Yuen2016 G
ANKRD11     AU2793302chr16:
89538239-89538239
ATintronicDe novo--Yuen2017 G
ANKRD11     3-0719-001chr16:
89413654-89413654
CGintronicDe novo--Trost2022 G
ANKRD11     7-0347-003chr16:
89437861-89437861
GCintronicDe novo--Trost2022 G
ANKRD11     AU2562301chr16:
89394723-89394723
CTintronicDe novo--Trost2022 G
ANKRD11     3-0706-000Achr16:
89401486-89401486
ACintronicDe novo--Trost2022 G
ANKRD11     SP0244470chr16:
89379892-89379892
CTintronicDe novo--Trost2022 G
ANKRD11     MSSNG00427-003chr16:
89392701-89392701
GTintronicDe novo--Trost2022 G
ANKRD11     SSC09920chr16:
89351042-89351047
GTGTTTGexonicDe novoframeshift deletionNM_001256183
NM_013275
NM_001256182
c.1903_1907del
c.1903_1907del
c.1903_1907del
p.K635fs
p.K635fs
p.K635fs
--Trost2022 G
ANKRD11     3-0602-000chr16:
89378558-89378558
GAintronicDe novo--Trost2022 G
ANKRD11     AU2461301chr16:
89474752-89474752
TCintronicDe novo--Trost2022 G
ANKRD11     AU054103 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
ANKRD11     MSSNG00406-003chr16:
89492308-89492308
CTintronicDe novo--Trost2022 G
ANKRD11     MT_87.3chr16:
89441911-89441911
GAintronicDe novo--Trost2022 G
ANKRD11     MT_178.3chr16:
89472402-89472402
CTintronicDe novo--Trost2022 G
ANKRD11     11089.p1chr16:
89451573-89451573
TCintronicDe novo--Turner2016 G
ANKRD11     Husson2020:395chr16:
89349490-89349491
CCCexonicDe novoframeshift deletionNM_001256183
NM_013275
NM_001256182
c.3459delG
c.3459delG
c.3459delG
p.E1153fs
p.E1153fs
p.E1153fs
--Husson2020 E
ANKRD11     MT_87.3chr16:
89441895-89441895
TCintronicDe novo--Trost2022 G
ANKRD11     MT_87.3 Complex Event; expand row to view variants  De novo--Trost2022 G
Trost2022 G
ANKRD11     MT_87.3chr16:
89441885-89441885
GCintronicDe novo--Trost2022 G
ANKRD11     MT_87.3chr16:
89441889-89441889
TCintronicDe novo--Trost2022 G
ANKRD11     SP0133979chr16:
89347000-89347000
GAexonicnonsynonymous SNVNM_001256183
NM_013275
NM_001256182
c.C5950T
c.C5950T
c.C5950T
p.P1984S
p.P1984S
p.P1984S
14.2-Zhou2022 GE
ANKRD11     SP0194370chr16:
89347794-89347794
ACexonicDe novononsynonymous SNVNM_001256183
NM_013275
NM_001256182
c.T5156G
c.T5156G
c.T5156G
p.M1719R
p.M1719R
p.M1719R
15.38-Trost2022 G
Zhou2022 GE
ANKRD11     AU072905chr16:
89423622-89423622
GAintronicDe novo--Trost2022 G
Yuen2017 G
ANKRD11     SP0250490chr16:
89347454-89347456
CCTCexonicDe novoframeshift deletionNM_001256183
NM_013275
NM_001256182
c.5494_5495del
c.5494_5495del
c.5494_5495del
p.R1832fs
p.R1832fs
p.R1832fs
--Trost2022 G
Zhou2022 GE
ANKRD11     AU4152303chr16:
89529242-89529242
ACintronicDe novo--Trost2022 G
ANKRD11     SP0071845chr16:
89357487-89357487
GTexonicnonsynonymous SNVNM_001256183
NM_013275
NM_001256182
c.C331A
c.C331A
c.C331A
p.L111I
p.L111I
p.L111I
28.7-Zhou2022 GE
ANKRD11     SP0250671chr16:
89349640-89349640
CCTexonicframeshift insertionNM_001256183
NM_013275
NM_001256182
c.3309dupA
c.3309dupA
c.3309dupA
p.D1104fs
p.D1104fs
p.D1104fs
-8.238E-6Zhou2022 GE
ANKRD11     SP0119666chr16:
89349326-89349326
CCTexonicframeshift insertionNM_001256183
NM_013275
NM_001256182
c.3623dupA
c.3623dupA
c.3623dupA
p.K1208fs
p.K1208fs
p.K1208fs
--Zhou2022 GE
ANKRD11     AU3885304chr16:
89405024-89405024
TCintronicDe novo--Yuen2017 G
ANKRD11     SP0146586chr16:
89351493-89351493
GAexonicDe novononsynonymous SNVNM_001256183
NM_013275
NM_001256182
c.C1457T
c.C1457T
c.C1457T
p.S486L
p.S486L
p.S486L
3.841-Trost2022 G
Zhou2022 GE
ANKRD11     SP0070310chr16:
89350788-89350789
ATAexonicframeshift deletionNM_001256183
NM_013275
NM_001256182
c.2161delA
c.2161delA
c.2161delA
p.I721fs
p.I721fs
p.I721fs
--Zhou2022 GE
ANKRD11     SP0055271chr16:
89351057-89351057
TCexonicDe novosynonymous SNVNM_001256183
NM_013275
NM_001256182
c.A1893G
c.A1893G
c.A1893G
p.K631K
p.K631K
p.K631K
--Trost2022 G
Zhou2022 GE
ANKRD11     AU046506chr16:
89350642-89350642
TCexonicDe novononsynonymous SNVNM_001256183
NM_013275
NM_001256182
c.A2308G
c.A2308G
c.A2308G
p.K770E
p.K770E
p.K770E
15.35-Trost2022 G
Zhou2022 GE
ANKRD11     SP0087329chr16:
89351594-89351594
ACexonicDe novononsynonymous SNVNM_001256183
NM_013275
NM_001256182
c.T1356G
c.T1356G
c.T1356G
p.N452K
p.N452K
p.N452K
9.201-Trost2022 G
Zhou2022 GE
ANKRD11     1-0025-006chr16:
89342444-89342445
ACAintronicDe novo--Trost2022 G
Yuen2017 G
ANKRD11     AU2123302chr16:
89410197-89410197
GAintronicDe novo--Trost2022 G
Yuen2017 G
ANKRD11     A25chr16:
89561467-89561467
GTintergenicDe novo--Wu2018 G
ANKRD11     SSC08755chr16:
89346730-89346730
CAexonicstopgainNM_001256183
NM_013275
NM_001256182
c.G6220T
c.G6220T
c.G6220T
p.E2074X
p.E2074X
p.E2074X
49.0-Antaki2022 GE
ANKRD11     SP0035786chr16:
89352053-89352055
GCTGexonicDe novoframeshift deletionNM_001256183
NM_013275
NM_001256182
c.895_896del
c.895_896del
c.895_896del
p.S299fs
p.S299fs
p.S299fs
--Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
ANKRD11     More2023:10chr16:
89346774-89346774
GTexonicInheritednonsynonymous SNVNM_001256183
NM_013275
NM_001256182
c.C6176A
c.C6176A
c.C6176A
p.P2059H
p.P2059H
p.P2059H
12.30.0547More2023 G
ANKRD11     1-0638-003chr16:
89472316-89472316
GCintronicDe novo--Trost2022 G
Yuen2017 G
ANKRD11     Miyake2023:11242chr16:
89341340-89341340
TGexonicDe novononsynonymous SNVNM_001256183
NM_013275
NM_001256182
c.A7595C
c.A7595C
c.A7595C
p.Q2532P
p.Q2532P
p.Q2532P
19.21-Miyake2023 E
ANKRD11     JASD_Fam0196chr16:
89341340-89341340
TGexonicDe novononsynonymous SNVNM_001256183
NM_013275
NM_001256182
c.A7595C
c.A7595C
c.A7595C
p.Q2532P
p.Q2532P
p.Q2532P
19.21-Takata2018 E
ANKRD11     EGAN00001101029chr16:
89351224-89351228
CGCTTCexonicDe novoframeshift deletionNM_001256183
NM_013275
NM_001256182
c.1722_1725del
c.1722_1725del
c.1722_1725del
p.T574fs
p.T574fs
p.T574fs
--Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
ANKRD11     SP0054367chr16:
89357487-89357487
GTexonicDe novononsynonymous SNVNM_001256183
NM_013275
NM_001256182
c.C331A
c.C331A
c.C331A
p.L111I
p.L111I
p.L111I
28.7-Fu2022 E
Trost2022 G
Zhou2022 GE
ANKRD11     12507.p1chr16:
89350771-89350775
CTTTGCexonicDe novoframeshift deletionNM_001256183
NM_013275
NM_001256182
c.2175_2178del
c.2175_2178del
c.2175_2178del
p.N725fs
p.N725fs
p.N725fs
--Dong2014 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lowther2023 G
Satterstrom2020 E
Zhou2022 GE
ANKRD11     13905.p1chr16:
89351042-89351047
GTGTTTGexonicDe novoframeshift deletionNM_001256183
NM_013275
NM_001256182
c.1903_1907del
c.1903_1907del
c.1903_1907del
p.K635fs
p.K635fs
p.K635fs
--Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lowther2023 G
Satterstrom2020 E
Zhou2022 GE
ANKRD11     Yalcintepe2021:1chr16:
89345596-89345596
GAexonicDe novononsynonymous SNVNM_001256183
NM_013275
NM_001256182
c.C7354T
c.C7354T
c.C7354T
p.R2452C
p.R2452C
p.R2452C
18.64-Yalcintepe2021 T
ANKRD11     AU2863302chr16:
89345882-89345882
CTexonicDe novosynonymous SNVNM_001256183
NM_013275
NM_001256182
c.G7068A
c.G7068A
c.G7068A
p.E2356E
p.E2356E
p.E2356E
--Yuen2017 G
Zhou2022 GE
ANKRD11     2-1264-003chr16:
89537069-89537069
TCintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
ANKRD11     ASC_11149-1chr16:
89347792-89347792
GTexonicDe novononsynonymous SNVNM_001256183
NM_013275
NM_001256182
c.C5158A
c.C5158A
c.C5158A
p.H1720N
p.H1720N
p.H1720N
22.1-Fu2022 E
ANKRD11     121623chr16:
89337275-89337275
GAexonicDe novostopgainNM_001256183
NM_013275
NM_001256182
c.C7756T
c.C7756T
c.C7756T
p.Q2586X
p.Q2586X
p.Q2586X
51.0-Fu2022 E
ANKRD11     DEASD_0270_001chr16:
89345715-89345716
TGTexonicDe novoframeshift deletionNM_001256183
NM_013275
NM_001256182
c.7234delC
c.7234delC
c.7234delC
p.Q2412fs
p.Q2412fs
p.Q2412fs
--Satterstrom2020 E
Trost2022 G
Zhou2022 GE
ANKRD11     SP0066537chr16:
89390591-89390591
GTintronicDe novo--Fu2022 E
Trost2022 G
ANKRD11     SP0015936chr16:
89347314-89347314
GAexonicDe novononsynonymous SNVNM_001256183
NM_013275
NM_001256182
c.C5636T
c.C5636T
c.C5636T
p.P1879L
p.P1879L
p.P1879L
12.158.584E-6Fu2022 E
Trost2022 G
Zhou2022 GE
ANKRD11     SSC05235chr16:
89350771-89350775
CTTTGCexonicDe novoframeshift deletionNM_001256183
NM_013275
NM_001256182
c.2175_2178del
c.2175_2178del
c.2175_2178del
p.N725fs
p.N725fs
p.N725fs
--Fu2022 E
Trost2022 G
ANKRD11     Ishay2021:4chr16:
89350537-89350542
CTTTTTCexonicDe novoframeshift deletionNM_001256183
NM_013275
NM_001256182
c.2408_2412del
c.2408_2412del
c.2408_2412del
p.K803fs
p.K803fs
p.K803fs
--Ishay2021 E
ANKRD11     2-1246-003chr16:
89527424-89527424
CGintronicDe 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 notesView
More