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Results for "ANKRD11"

Variant Events: 25

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-Wilfert2021 G
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--Yuen2017 G
ANKRD11     1-0025-006chr16:
89342444-89342445
ACAintronicDe novo--Yuen2017 G
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--Yuen2017 G
ANKRD11     AU2123302chr16:
89410197-89410197
GAintronicDe novo--Yuen2017 G
ANKRD11     A25chr16:
89561467-89561467
GTintergenicDe novo--Wu2018 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-6Satterstrom2020 E
ANKRD11     3-0438-000chr16:
89447934-89447934
TCintronicDe novo--Yuen2016 G
ANKRD11     AU2793302chr16:
89538239-89538239
ATintronicDe novo--Yuen2017 G
ANKRD11     1-0638-003chr16:
89472316-89472316
GCintronicDe novo--Yuen2017 G
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     AU054103chr16:
89400267-89400270
TTCTTTintronicDe novo--Yuen2017 G
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
--Satterstrom2020 E
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
Satterstrom2020 E
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
Satterstrom2020 E
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     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
ANKRD11     2-1264-003chr16:
89537069-89537069
TCintronicDe novo--Yuen2016 G
Yuen2017 G
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
ANKRD11     AU072905chr16:
89423622-89423622
GAintronicDe novo--Yuen2017 G
ANKRD11     2-1246-003chr16:
89527424-89527424
CGintronicDe novo--Yuen2017 G
ANKRD11     AU3885304chr16:
89405024-89405024
TCintronicDe novo--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
Curation notesView
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