Variant Results

or

Results for "ANKRD11"

Variant Events: 36

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.p1

chr16:
89346730-89346730

C

A

exonic

De novo

stopgain

NM_001256183
NM_013275
NM_001256182

c.G6220T
c.G6220T
c.G6220T

p.E2074X
p.E2074X
p.E2074X

49.0

-

Wilfert2021 G

ANKRD11

M20652

chr16:
89357429-89357429

T

C

exonic

Paternal

nonsynonymous SNV

NM_001256183
NM_013275
NM_001256182

c.A389G
c.A389G
c.A389G

p.N130S
p.N130S
p.N130S

34.0

5.125E-5

Guo2018 T
Wang2016 T

ANKRD11

2-1292-003

chr16:
89472903-89472903

C

T

intronic

De novo

-

Yuen2017 G

ANKRD11

1-0025-006

chr16:
89342444-89342445

AC

A

intronic

De novo

-

Yuen2017 G

ANKRD11

214-17075-1

chr16:
89357054-89357054

C

T

exonic

Inherited

nonsynonymous SNV

NM_001256183
NM_013275
NM_001256182

c.G580A
c.G580A
c.G580A

p.V194I
p.V194I
p.V194I

36.0

1.659E-5

Stessman2017 T

ANKRD11

AU066104

chr16:
89382592-89382592

G

A

intronic

De novo

-

Yuen2017 G

ANKRD11

AU2123302

chr16:
89410197-89410197

G

A

intronic

De novo

-

Yuen2017 G

ANKRD11

A25

chr16:
89561467-89561467

G

T

intergenic

De novo

-

Wu2018 G

ANKRD11

SSC08755

chr16:
89346730-89346730

C

A

exonic

stopgain

NM_001256183
NM_013275
NM_001256182

c.G6220T
c.G6220T
c.G6220T

p.E2074X
p.E2074X
p.E2074X

49.0

-

Antaki2022 GE

ANKRD11

SP0035786

chr16:
89352053-89352055

GCT

G

exonic

De novo

frameshift deletion

NM_001256183
NM_013275
NM_001256182

c.895_896del
c.895_896del
c.895_896del

p.S299fs
p.S299fs
p.S299fs

-

Antaki2022 GE
Fu2022 E

ANKRD11

07C67708

chr16:
89351461-89351461

C

G

exonic

De novo

nonsynonymous SNV

NM_001256183
NM_013275
NM_001256182

c.G1489C
c.G1489C
c.G1489C

p.G497R
p.G497R
p.G497R

9.795

8.335E-6

Fu2022 E
Satterstrom2020 E

ANKRD11

3-0438-000

chr16:
89447934-89447934

T

C

intronic

De novo

-

Yuen2016 G

ANKRD11

AU2793302

chr16:
89538239-89538239

A

T

intronic

De novo

-

Yuen2017 G

ANKRD11

More2023:10

chr16:
89346774-89346774

G

T

exonic

Inherited

nonsynonymous SNV

NM_001256183
NM_013275
NM_001256182

c.C6176A
c.C6176A
c.C6176A

p.P2059H
p.P2059H
p.P2059H

12.3

0.0547

More2023 G

ANKRD11

1-0638-003

chr16:
89472316-89472316

G

C

intronic

De novo

-

Yuen2017 G

ANKRD11

JASD_Fam0196

chr16:
89341340-89341340

T

G

exonic

De novo

nonsynonymous SNV

NM_001256183
NM_013275
NM_001256182

c.A7595C
c.A7595C
c.A7595C

p.Q2532P
p.Q2532P
p.Q2532P

19.21

-

Takata2018 E

ANKRD11

AU054103

chr16:
89400267-89400270

TTCT

TT

intronic

De novo

-

Yuen2017 G

ANKRD11

EGAN00001101029

chr16:
89351224-89351228

CGCTT

C

exonic

De novo

frameshift deletion

NM_001256183
NM_013275
NM_001256182

c.1722_1725del
c.1722_1725del
c.1722_1725del

p.T574fs
p.T574fs
p.T574fs

-

Fu2022 E
Satterstrom2020 E

ANKRD11

SP0054367

chr16:
89357487-89357487

G

T

exonic

De novo

nonsynonymous SNV

NM_001256183
NM_013275
NM_001256182

c.C331A
c.C331A
c.C331A

p.L111I
p.L111I
p.L111I

28.7

-

Fu2022 E

ANKRD11

12507.p1

chr16:
89350771-89350775

CTTTG

C

exonic

De novo

frameshift deletion

NM_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.p1

chr16:
89351042-89351047

GTGTTT

G

exonic

De novo

frameshift deletion

NM_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.p1

chr16:
89451573-89451573

T

C

intronic

De novo

-

Turner2016 G

ANKRD11

Husson2020:395

chr16:
89349490-89349491

CC

C

exonic

De novo

frameshift deletion

NM_001256183
NM_013275
NM_001256182

c.3459delG
c.3459delG
c.3459delG

p.E1153fs
p.E1153fs
p.E1153fs

-

Husson2020 E

ANKRD11

Yalcintepe2021:1

chr16:
89345596-89345596

G

A

exonic

De novo

nonsynonymous SNV

NM_001256183
NM_013275
NM_001256182

c.C7354T
c.C7354T
c.C7354T

p.R2452C
p.R2452C
p.R2452C

18.64

-

Yalcintepe2021 T

ANKRD11

AU2863302

chr16:
89345882-89345882

C

T

exonic

De novo

synonymous SNV

NM_001256183
NM_013275
NM_001256182

c.G7068A
c.G7068A
c.G7068A

p.E2356E
p.E2356E
p.E2356E

-

Yuen2017 G

ANKRD11

2-1264-003

chr16:
89537069-89537069

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

ANKRD11

ASC_11149-1

chr16:
89347792-89347792

G

T

exonic

De novo

nonsynonymous SNV

NM_001256183
NM_013275
NM_001256182

c.C5158A
c.C5158A
c.C5158A

p.H1720N
p.H1720N
p.H1720N

22.1

-

Fu2022 E

ANKRD11

121623

chr16:
89337275-89337275

G

A

exonic

De novo

stopgain

NM_001256183
NM_013275
NM_001256182

c.C7756T
c.C7756T
c.C7756T

p.Q2586X
p.Q2586X
p.Q2586X

51.0

-

Fu2022 E

ANKRD11

DEASD_0270_001

chr16:
89345715-89345716

TG

T

exonic

De novo

frameshift deletion

NM_001256183
NM_013275
NM_001256182

c.7234delC
c.7234delC
c.7234delC

p.Q2412fs
p.Q2412fs
p.Q2412fs

-

Satterstrom2020 E

ANKRD11

AU072905

chr16:
89423622-89423622

G

A

intronic

De novo

-

Yuen2017 G

ANKRD11

SP0066537

chr16:
89390591-89390591

G

T

intronic

De novo

-

Fu2022 E

ANKRD11

SP0015936

chr16:
89347314-89347314

G

A

exonic

De novo

nonsynonymous SNV

NM_001256183
NM_013275
NM_001256182

c.C5636T
c.C5636T
c.C5636T

p.P1879L
p.P1879L
p.P1879L

12.15

8.584E-6

Fu2022 E

ANKRD11

SSC05235

chr16:
89350771-89350775

CTTTG

C

exonic

De novo

frameshift deletion

NM_001256183
NM_013275
NM_001256182

c.2175_2178del
c.2175_2178del
c.2175_2178del

p.N725fs
p.N725fs
p.N725fs

-

Fu2022 E

ANKRD11

Ishay2021:4

chr16:
89350537-89350542

CTTTTT

C

exonic

De novo

frameshift deletion

NM_001256183
NM_013275
NM_001256182

c.2408_2412del
c.2408_2412del
c.2408_2412del

p.K803fs
p.K803fs
p.K803fs

-

Ishay2021 E

ANKRD11

2-1246-003

chr16:
89527424-89527424

C

G

intronic

De novo

-

Yuen2017 G

ANKRD11

AU3885304

chr16:
89405024-89405024

T

C

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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