Variant Results

or

Results for "ANKS1B"

Variant Events: 146

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

ANKS1B

2-1562-003

chr12:
99666660-99666660

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANKS1B

1-0345-003

chr12:
99162688-99162688

A

ACT

intronic

De novo

-

Yuen2017 G

ANKS1B

5-0103-003

chr12:
100416788-100416788

G

A

intergenic

De novo

-

Yuen2017 G

ANKS1B

1-0652-003

chr12:
99386219-99386219

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANKS1B

2-1356-003

chr12:
99580834-99580834

G

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ANKS1B

AU2140305

chr12:
99516654-99516654

T

TA

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANKS1B

2-1239-003

chr12:
99196700-99196700

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

ANKS1B

AU1725306

chr12:
100176109-100176109

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANKS1B

1-0051-005

chr12:
99566220-99566220

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANKS1B

AU1795302

chr12:
99390680-99390680

T

C

intronic

De novo

-

Yuen2017 G

ANKS1B

AU2792301

chr12:
99798462-99798462

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANKS1B

SP0006321

chr12:
99548417-99548417

A

T

UTR5

De novo

-

Fu2022 E
Trost2022 G

ANKS1B

7-0249-004

chr12:
99176976-99176976

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANKS1B

mAGRE5496

chr12:
99129362-99129364

AGT

A

exonic

Maternal

frameshift deletion

NM_001204081
NM_020140
NM_152788

c.739_740del
c.1219_1220del
c.3721_3722del

p.T247fs
p.T407fs
p.T1241fs

-

2.503E-5

Cirnigliaro2023 G

ANKS1B

mAGRE5495

chr12:
99129362-99129364

AGT

A

exonic

Maternal

frameshift deletion

NM_001204081
NM_020140
NM_152788

c.739_740del
c.1219_1220del
c.3721_3722del

p.T247fs
p.T407fs
p.T1241fs

-

2.503E-5

Cirnigliaro2023 G

ANKS1B

2-1134-003

chr12:
99228431-99228431

C

T

intronic

De novo

-

Yuen2017 G

ANKS1B

2-1507-003

chr12:
99286323-99286323

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANKS1B

mAGRE4923

chr12:
100206021-100206021

G

T

exonic

De novo

nonsynonymous SNV

NM_152788

c.C284A

p.P95H

26.1

-

Cirnigliaro2023 G

ANKS1B

AU018010

chr12:
100020685-100020685

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANKS1B

AU4079301

chr12:
99569480-99569480

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANKS1B

1-0664-003A

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

ANKS1B

2-1727-003

chr12:
99141926-99141926

A

G

intronic

De novo

-

Trost2022 G

ANKS1B

1-1158-003

chr12:
99130530-99130530

A

G

intronic

De novo

-

Trost2022 G

ANKS1B

2-1485-004

chr12:
100065313-100065313

C

CTATCATA

intronic

De novo

-

Yuen2017 G

ANKS1B

REACH000202

chr12:
99134856-99134856

C

A

intronic

De novo

-

Trost2022 G

ANKS1B

MSSNG00043-004A

chr12:
99292491-99292491

A

G

intronic

De novo

-

Trost2022 G

ANKS1B

1-0345-004

chr12:
99162688-99162688

A

ACT

intronic

De novo

-

Yuen2017 G

ANKS1B

2-1068-003

chr12:
99294859-99294859

G

A

intronic

De novo

-

Trost2022 G

ANKS1B

A9

chr12:
99702565-99702565

T

G

intronic

De novo

-

Wu2018 G

ANKS1B

14-613

chr12:
99252830-99252830

C

T

intronic

De novo

-

Trost2022 G

ANKS1B

MSSNG00043-004A

chr12:
99291782-99291782

A

G

intronic

De novo

-

Trost2022 G

ANKS1B

7-0104-003

chr12:
99845332-99845332

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANKS1B

3-0439-000

chr12:
99682033-99682033

C

A

intronic

De novo

-

Yuen2016 G

ANKS1B

7-0462-003

chr12:
99245230-99245230

C

T

intronic

De novo

-

Trost2022 G

ANKS1B

1-0695-003

chr12:
99247225-99247230

GCATGC

G

intronic

De novo

-

Trost2022 G

ANKS1B

2-1594-003

chr12:
99821647-99821647

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANKS1B

MSSNG00108-004

chr12:
99185270-99185270

G

A

intronic

De novo

-

Trost2022 G

ANKS1B

3-0539-000

chr12:
99224551-99224551

T

G

intronic

De novo

-

Trost2022 G

ANKS1B

1-0616-003

chr12:
99415968-99415968

T

C

intronic

De novo

-

Trost2022 G

ANKS1B

AU2387301

chr12:
99437499-99437499

A

G

intronic

De novo

-

Trost2022 G

ANKS1B

MSSNG00057-003

chr12:
99383212-99383212

T

C

intronic

De novo

-

Trost2022 G

ANKS1B

AU3849302

chr12:
99430641-99430641

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANKS1B

1-1055-003

chr12:
99410231-99410231

C

T

intronic

De novo

-

Trost2022 G

ANKS1B

4-0062-003

chr12:
99362447-99362448

GA

TT

intronic

De novo

-

Trost2022 G

ANKS1B

3-0531-000

chr12:
99364002-99364002

T

C

intronic

De novo

-

Trost2022 G

ANKS1B

MSSNG00109-005

chr12:
99303447-99303447

A

G

intronic

De novo

-

Trost2022 G

ANKS1B

REACH000292

chr12:
99357946-99357946

T

A

intronic

De novo

-

Trost2022 G

ANKS1B

5-1012-004

chr12:
99566358-99566358

G

A

intronic

De novo

-

Trost2022 G

ANKS1B

AU2410301

chr12:
99769630-99769630

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANKS1B

4-0074-003

chr12:
99614416-99614416

G

A

intronic

De novo

-

Trost2022 G

ANKS1B

1-0649-003

chr12:
99512956-99512956

T

C

intronic

De novo

-

Trost2022 G

ANKS1B

4-0062-003

chr12:
99552885-99552886

GC

AT

intronic

De novo

-

Trost2022 G

ANKS1B

2-1764-003

chr12:
99479066-99479066

A

T

intronic

De novo

-

Trost2022 G

ANKS1B

MSSNG00364-003

chr12:
99452198-99452198

G

GT

intronic

De novo

-

Trost2022 G

ANKS1B

2-0102-003

chr12:
99822630-99822630

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANKS1B

AU2639301

chr12:
99465273-99465273

A

G

intronic

De novo

-

Trost2022 G

ANKS1B

5-0073-003

chr12:
99662851-99662851

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANKS1B

AU1640302

chr12:
99704829-99704829

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANKS1B

SJD_14.3

chr12:
99687779-99687779

T

C

intronic

De novo

-

Trost2022 G

ANKS1B

5-0095-003

chr12:
99753868-99753868

A

T

intronic

De novo

-

Yuen2017 G

ANKS1B

7-0465-003

chr12:
99688435-99688435

C

CT

intronic

De novo

-

Trost2022 G

ANKS1B

REACH000089

chr12:
99671479-99671479

A

G

intronic

De novo

-

Trost2022 G

ANKS1B

AU2288301

chr12:
99679686-99679686

G

A

intronic

De novo

-

Trost2022 G

ANKS1B

MSSNG00387-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

ANKS1B

MSSNG00387-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

ANKS1B

MT_172.3

chr12:
99634526-99634527

CA

C

intronic

De novo

-

Trost2022 G

ANKS1B

AU1640302

chr12:
99549531-99549531

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANKS1B

MSSNG00255-004

chr12:
99635206-99635206

T

C

intronic

De novo

-

Trost2022 G

ANKS1B

AU2310301

chr12:
99823647-99823647

C

T

intronic

De novo

-

Trost2022 G

ANKS1B

MSSNG00441-003

chr12:
99834491-99834491

G

A

intronic

De novo

-

Trost2022 G

ANKS1B

MSSNG00028-004

chr12:
99807746-99807746

G

A

intronic

De novo

-

Trost2022 G

ANKS1B

MT_74.3

chr12:
99808139-99808139

G

C

intronic

De novo

-

Trost2022 G

ANKS1B

2-1365-003

chr12:
99405407-99405407

T

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ANKS1B

4-0073-003

chr12:
99735872-99735873

TG

AA

intronic

De novo

-

Trost2022 G

ANKS1B

REACH000533

chr12:
99784851-99784851

G

A

intronic

De novo

-

Trost2022 G

ANKS1B

2-1398-004

chr12:
99700252-99700252

T

C

intronic

De novo

-

Trost2022 G

ANKS1B

MSSNG00341-003

chr12:
99715335-99715335

C

T

intronic

De novo

-

Trost2022 G

ANKS1B

2-1264-003

chr12:
99544004-99544004

C

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ANKS1B

2-1258-004

chr12:
99914184-99914185

GG

CT

intronic

De novo

-

Trost2022 G

ANKS1B

5-5146-005

chr12:
99917849-99917855

ACAGTTC

A

intronic

De novo

-

Trost2022 G

ANKS1B

MSSNG00256-005

chr12:
99859686-99859686

C

T

intronic

De novo

-

Trost2022 G

ANKS1B

1-0903-003

chr12:
99879195-99879195

T

TA

intronic

De novo

-

Trost2022 G

ANKS1B

AU2303301

chr12:
99846843-99846843

C

T

intronic

De novo

-

Trost2022 G

ANKS1B

1-0494-003

chr12:
99685067-99685067

A

G

intronic

De novo

-

Yuen2017 G

ANKS1B

2-1724-003

chr12:
99855070-99855070

A

AGTG

intronic

De novo

-

Trost2022 G

ANKS1B

MSSNG00466-003

chr12:
99834882-99834882

G

A

intronic

De novo

-

Trost2022 G

ANKS1B

4-0007-003

chr12:
99845979-99845979

G

A

intronic

De novo

-

Trost2022 G

ANKS1B

AU2687301

chr12:
100004802-100004804

CCT

C

intronic

De novo

-

Trost2022 G

ANKS1B

MSSNG00201-003

chr12:
99952955-99952955

G

A

intronic

De novo

-

Trost2022 G

ANKS1B

MT_50.3

chr12:
99974308-99974308

A

G

intronic

De novo

-

Trost2022 G

ANKS1B

MSSNG00037-003

chr12:
99947437-99947437

T

A

intronic

De novo

-

Trost2022 G

ANKS1B

2-0002-005

chr12:
100341378-100341378

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANKS1B

MSSNG00037-003

chr12:
99947447-99947447

C

T

intronic

De novo

-

Trost2022 G

ANKS1B

3-0007-000

chr12:
99918912-99918912

T

C

intronic

De novo

-

Trost2022 G

ANKS1B

2-1644-003

chr12:
99938793-99938794

CA

AT

intronic

De novo

-

Trost2022 G

ANKS1B

2-1795-003

chr12:
100131755-100131755

C

G

intronic

De novo

-

Trost2022 G

ANKS1B

D4S2Z-01

chr12:
100162883-100162883

G

A

intronic

De novo

-

Trost2022 G

ANKS1B

3-0284-000

chr12:
100124426-100124426

C

T

intronic

De novo

-

Trost2022 G

ANKS1B

1-0763-003

chr12:
100125677-100125678

TT

AA

intronic

De novo

-

Trost2022 G

ANKS1B

AU4234303

chr12:
99569607-99569607

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANKS1B

5-5123-003

chr12:
100092096-100092096

G

A

intronic

De novo

-

Trost2022 G

ANKS1B

AU3891303

chr12:
99274922-99274922

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANKS1B

1-0636-003

chr12:
100111923-100111923

C

A

intronic

De novo

-

Trost2022 G

ANKS1B

AU4231301

chr12:
99759656-99759656

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANKS1B

7-0442-003

chr12:
100067280-100067280

A

G

intronic

De novo

-

Trost2022 G

ANKS1B

1-0207-005

chr12:
100068883-100068883

G

A

intronic

De novo

-

Trost2022 G

ANKS1B

4-0023-004

chr12:
100340226-100340226

G

A

intronic

De novo

-

Trost2022 G

ANKS1B

AU2320301

chr12:
100314998-100314998

T

A

intronic

De novo

-

Trost2022 G

ANKS1B

7-0203-003

chr12:
100333225-100333225

T

C

intronic

De novo

-

Trost2022 G

ANKS1B

T2T9E-01

chr12:
100216656-100216656

G

T

intronic

De novo

-

Trost2022 G

ANKS1B

3-0742-000

chr12:
100247617-100247617

T

C

intronic

De novo

-

Trost2022 G

ANKS1B

SP0172920

chr12:
100200434-100200434

T

C

exonic

De novo

synonymous SNV

NM_152788

c.A417G

p.G139G

-

Trost2022 G

ANKS1B

7-0252-003

chr12:
100204671-100204671

T

C

intronic

De novo

-

Trost2022 G

ANKS1B

2-0242-003

chr12:
99162688-99162688

A

ACT

intronic

De novo

-

Yuen2017 G

ANKS1B

3-0185-000

chr12:
100075204-100075204

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANKS1B

7-0106-003

chr12:
100076861-100076861

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANKS1B

1-0224-004

chr12:
99548329-99548329

C

G

UTR5

De novo

-

Trost2022 G
Yuen2017 G

ANKS1B

A2

chr12:
100310056-100310056

T

C

intronic

De novo

-

Wu2018 G

ANKS1B

F5674-1

chr12:
99837458-99837458

C

T

exonic

De novo

nonsynonymous SNV

NM_152788

c.G1568A

p.R523Q

31.0

-

Montenegro2019 E

ANKS1B

PN400171

chr12:
99640092-99640092

A

T

exonic

De novo

nonsynonymous SNV

NM_152788

c.T2307A

p.N769K

12.38

-

Leblond2019 E

ANKS1B

1-0651-003

chr12:
100064055-100064055

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANKS1B

9190783

chr12:
100169181-100169181

G

C

intronic

De novo

-

Fu2022 E

ANKS1B

AU3885304

chr12:
100235916-100235916

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANKS1B

2-0011-004

chr12:
99692849-99692849

T

TC

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANKS1B

AU3634301

chr12:
99446815-99446815

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANKS1B

AU038703

chr12:
100295649-100295649

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANKS1B

1-0406-003

chr12:
100027883-100027883

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANKS1B

AU4215302

chr12:
99152963-99152963

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANKS1B

207-08-109930

chr12:
100042600-100042600

A

G

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

ANKS1B

1-0804-003

chr12:
99339528-99339528

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANKS1B

2-1459-003

chr12:
99144370-99144370

T

TG

intronic

De novo

-

Trost2022 G
Yuen2016 G

ANKS1B

2-1391-003

chr12:
100236633-100236633

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANKS1B

AU4233301

chr12:
99572929-99572929

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANKS1B

1-0494-003A

chr12:
99685067-99685067

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANKS1B

1-0638-003

chr12:
99284596-99284596

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANKS1B

2-1485-003

chr12:
100065313-100065313

C

CTATCATA

intronic

De novo

-

Yuen2017 G

ANKS1B

2-1341-004

chr12:
99770429-99770429

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANKS1B

5-0026-003

chr12:
100375176-100375177

TA

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANKS1B

AU3680301

chr12:
99845912-99845912

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANKS1B

AU2100302

chr12:
99180042-99180042

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANKS1B

PN400584

chr12:
99793570-99793572

ATG

A

exonic

Unknown

frameshift deletion

NM_152788

c.1593_1594del

p.S531fs

-

Leblond2019 E

ANKS1B

AU4191302

chr12:
99957823-99957823

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANKS1B

Cukier2014:17678

chr12:
99837570-99837570

C

T

exonic

Unknown

nonsynonymous SNV

NM_152788

c.G1456A

p.A486T

13.47

0.0121

Cukier2014 E

ANKS1B

1-0901-003

chr12:
100421958-100421958

A

T

intergenic

De novo

-

Yuen2017 G

ANKS1B

2-1357-004

chr12:
99819916-99819918

CAG

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANKS1B

1-0025-004

chr12:
99714965-99714965

C

T

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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