Variant Results

or

Results for "AUTS2"

Variant Events: 95

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

AUTS2

AU1988302

chr7:
69582401-69582401

T

C

intronic

De novo

-

Yuen2017 G

AUTS2

2-0272-003

chr7:
69192748-69192748

T

C

intronic

De novo

-

Yuen2017 G

AUTS2

2-1093-009

chr7:
69805681-69805681

T

G

intronic

De novo

-

Yuen2017 G

AUTS2

1-0402-004

chr7:
69868873-69868873

G

A

intronic

De novo

-

Yuen2017 G

AUTS2

7-0102-003

chr7:
70007764-70007764

C

A

intronic

De novo

-

Yuen2017 G

AUTS2

12360.p1

chr7:
69283187-69283188

TG

T

intronic

De novo

-

Wilfert2021 G

AUTS2

1-0153-004

chr7:
69079322-69079322

C

CTTTTCTTTCT

intronic

De novo

-

Yuen2017 G

AUTS2

1-0300-004

chr7:
69780880-69780880

G

A

intronic

De novo

-

Yuen2017 G

AUTS2

AU4032305

chr7:
69168407-69168407

A

T

intronic

De novo

-

Yuen2017 G

AUTS2

1-0465-003a

chr7:
69834050-69834050

A

G

intronic

De novo

-

Yuen2017 G

AUTS2

14642.p1

chr7:
69203056-69203056

T

C

intronic

De novo

-

Turner2016 G

AUTS2

2-1188-003

chr7:
70093809-70093809

C

T

intronic

De novo

-

Yuen2017 G

AUTS2

ASC_11207-1

chr7:
70231302-70231302

G

A

exonic

De novo

synonymous SNV

NM_001127231
NM_015570

c.G1671A
c.G1671A

p.P557P
p.P557P

9.466

4.957E-5

Fu2022 E

AUTS2

13023.p1

chr7:
69345245-69345245

C

T

intronic

De novo

-

Turner2016 G

AUTS2

Husson2020:215

chr7:
70228095-70228097

ACA

A

exonic

frameshift deletion

NM_001127231
NM_015570

c.983_984del
c.983_984del

p.T328fs
p.T328fs

-

Husson2020 E

AUTS2

AU2437302

chr7:
69404401-69404401

A

G

intronic

De novo

-

Yuen2017 G

AUTS2

14153.p1

chr7:
69109325-69109325

C

T

intronic

De novo

-

Turner2016 G

AUTS2

2-1180-003

chr7:
69917554-69917554

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

AUTS2

1-0668-003

chr7:
70105268-70105268

A

G

intronic

De novo

-

Yuen2017 G

AUTS2

11002.p1

chr7:
70444871-70444871

C

T

intergenic

De novo

-

Turner2016 G

AUTS2

AU075703

chr7:
70387043-70387043

G

A

intergenic

De novo

-

Yuen2017 G

AUTS2

AU1933301

chr7:
69228386-69228386

T

C

intronic

De novo

-

Yuen2017 G

AUTS2

1-0052-004

chr7:
69241109-69241111

CAG

C

intronic

De novo

-

Yuen2017 G

AUTS2

AU4079301

chr7:
69295696-69295696

A

G

intronic

De novo

-

Yuen2017 G

AUTS2

AU3053301

chr7:
70397384-70397384

C

T

intergenic

De novo

-

Yuen2017 G

AUTS2

1-0277-003

chr7:
70084148-70084148

C

T

intronic

De novo

-

Yuen2017 G

AUTS2

AU4215302

chr7:
70286729-70286729

C

G

intergenic

De novo

-

Yuen2017 G

AUTS2

2-1690-003

chr7:
69374188-69374188

C

G

intronic

De novo

-

Yuen2017 G

AUTS2

1-0271-004

chr7:
69403425-69403425

T

G

intronic

De novo

-

Yuen2017 G

AUTS2

2-1407-003

chr7:
70255088-70255088

C

T

exonic

De novo

synonymous SNV

NM_001127231
NM_015570

c.C2814T
c.C2886T

p.A938A
p.A962A

-

2.363E-5

Yuen2016 G

AUTS2

AU4072303

chr7:
69071694-69071695

TG

T

intronic

De novo

-

Yuen2017 G

AUTS2

AU4197301

chr7:
70497863-70497863

G

A

intergenic

De novo

-

Yuen2017 G

AUTS2

AU1355301

chr7:
70005325-70005325

C

G

intronic

De novo

-

Yuen2017 G

AUTS2

1-0539-003

chr7:
69831012-69831012

C

A

intronic

De novo

-

Yuen2017 G

AUTS2

1-0046-003

chr7:
69869939-69869939

T

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

AUTS2

1-0144-004

chr7:
69337397-69337397

C

G

intronic

De novo

-

Yuen2017 G

AUTS2

1-0465-003

chr7:
69834050-69834050

A

G

intronic

De novo

-

Yuen2017 G

AUTS2

2-1459-003

chr7:
69611861-69611861

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

AUTS2

1-0745-003

chr7:
69249613-69249613

G

A

intronic

De novo

-

Yuen2017 G

AUTS2

1-0112-004

chr7:
70518335-70518335

T

TGA

intergenic

De novo

-

Yuen2017 G

AUTS2

1-0497-003

chr7:
69919131-69919131

G

A

intronic

De novo

-

Yuen2017 G

AUTS2

2-1127-003

chr7:
70280008-70280008

C

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

AUTS2

2-1506-003

chr7:
69340868-69340868

G

A

intronic

De novo

-

Yuen2017 G

AUTS2

2-1338-003

chr7:
70173062-70173062

A

G

intronic

De novo

-

Yuen2017 G

AUTS2

5-0073-003

chr7:
69904300-69904300

G

A

intronic

De novo

-

Yuen2017 G

AUTS2

5-0095-003

chr7:
70543258-70543258

C

T

intergenic

De novo

-

Yuen2017 G

AUTS2

08C78430

chr7:
70246754-70246754

T

G

intronic

De novo

-

Satterstrom2020 E

AUTS2

2-1741-003

chr7:
69852879-69852879

A

T

intronic

De novo

-

Yuen2017 G

AUTS2

AU2293301

chr7:
69369444-69369448

ACTCT

ACT

intronic

De novo

-

Yuen2017 G

AUTS2

AU4012302

chr7:
70340537-70340537

G

A

intergenic

De novo

-

Yuen2017 G

AUTS2

2-0063-003

chr7:
70376637-70376637

T

C

intergenic

De novo

-

Yuen2017 G

AUTS2

AU3761302

chr7:
70346293-70346293

G

A

intergenic

De novo

-

Yuen2017 G

AUTS2

1-0121-003

chr7:
70255089-70255089

G

A

exonic

De novo

nonsynonymous SNV

NM_001127231
NM_015570

c.G2815A
c.G2887A

p.E939K
p.E963K

17.17

-

Yuen2017 G

AUTS2

AU3779301

chr7:
70194463-70194463

A

G

intronic

De novo

-

Yuen2017 G

AUTS2

1-0868-003

chr7:
70007126-70007126

G

T

intronic

De novo

-

Yuen2017 G

AUTS2

SP0146179

chr7:
70242102-70242102

G

A

exonic

De novo

stopgain

NM_001127231
NM_015570

c.G1874A
c.G1946A

p.W625X
p.W649X

28.2

-

Fu2022 E

AUTS2

1-0756-003

chr7:
70438887-70438887

A

AAG

intergenic

De novo

-

Yuen2017 G

AUTS2

2-1629-003

chr7:
69539474-69539474

T

C

intronic

De novo

-

Yuen2017 G

AUTS2

1-0171-005

chr7:
70333754-70333754

G

A

intergenic

De novo

-

Yuen2017 G

AUTS2

1-0289-003

chr7:
69108619-69108619

C

A

intronic

De novo

-

Yuen2017 G

AUTS2

2-1269-003

chr7:
70135588-70135588

G

A

intronic

De novo

-

Yuen2017 G

AUTS2

2-1456-003

chr7:
69411401-69411401

A

G

intronic

De novo

-

Yuen2017 G

AUTS2

AU3903301

chr7:
69901598-69901598

A

T

intronic

De novo

-

Yuen2017 G

AUTS2

1-0546-003

chr7:
69238262-69238262

T

C

intronic

De novo

-

Yuen2017 G

AUTS2

SP0046081

chr7:
69064950-69064950

T

C

splicing

Inherited

splicing

17.77

-

Feliciano2019 E

AUTS2

AU4463303

chr7:
69697901-69697901

G

T

intronic

De novo

-

Yuen2017 G

AUTS2

1-0973-003

chr7:
69287092-69287092

A

C

intronic

De novo

-

Yuen2017 G

AUTS2

7-0055-003

chr7:
69212045-69212045

G

T

intronic

De novo

-

Yuen2017 G

AUTS2

SP0071240

chr7:
70231114-70231114

C

T

exonic

De novo

stopgain

NM_001127231
NM_015570

c.C1483T
c.C1483T

p.R495X
p.R495X

37.0

-

Antaki2022 GE
Fu2022 E

AUTS2

SP0013518

chr7:
69064822-69064823

GC

G

exonic

De novo

frameshift deletion

NM_001127231
NM_001127232
NM_015570

c.184delC
c.184delC
c.184delC

p.P62fs
p.P62fs
p.P62fs

-

Antaki2022 GE
Fu2022 E

AUTS2

SP0074147

chr7:
70255938-70255938

G

A

exonic

De novo

nonsynonymous SNV

NM_001127231
NM_015570

c.G3664A
c.G3736A

p.E1222K
p.E1246K

21.9

-

Fu2022 E

AUTS2

SP0093939

chr7:
70255083-70255083

G

A

exonic

De novo

nonsynonymous SNV

NM_001127231
NM_015570

c.G2809A
c.G2881A

p.E937K
p.E961K

28.5

-

Fu2022 E

AUTS2

SP0012036

chr7:
70232973-70232973

G

C

intronic

De novo

-

Fu2022 E

AUTS2

SP0042928

chr7:
70230032-70230032

C

T

intronic

De novo

-

Fu2022 E

AUTS2

Lee2020:69

chr7:
70255163-70255164

GG

G

exonic

frameshift deletion

NM_001127231
NM_015570

c.2890delG
c.2962delG

p.E964fs
p.E988fs

-

Lee2020 T

AUTS2

AU3846302

chr7:
70015606-70015606

G

T

intronic

De novo

-

Yuen2017 G

AUTS2

2-1235-004

chr7:
70491966-70491966

T

C

intergenic

De novo

-

Yuen2017 G

AUTS2

7-0253-005

chr7:
70573190-70573207

CAGAGAGAGAGAGAGAGA

CAGAGAGAGAGAGAGA

intergenic

De novo

-

Yuen2017 G

AUTS2

AU3645301

chr7:
70003295-70003295

C

T

intronic

De novo

-

Yuen2017 G

AUTS2

5-0103-003

chr7:
70069605-70069605

A

G

intronic

De novo

-

Yuen2017 G

AUTS2

A15

chr7:
69801049-69801049

C

T

intronic

De novo

-

Wu2018 G

AUTS2

AU3913302

chr7:
69673267-69673267

C

T

intronic

De novo

-

Yuen2017 G

AUTS2

2-1297-004

chr7:
69618502-69618502

A

T

intronic

De novo

-

Yuen2017 G

AUTS2

1-0321-004

chr7:
69736910-69736910

G

A

intronic

De novo

-

Yuen2017 G

AUTS2

2-1120-003

chr7:
69571257-69571257

A

G

intronic

De novo

-

Yuen2017 G

AUTS2

AU2022302

chr7:
70353573-70353573

C

A

intergenic

De novo

-

Yuen2017 G

AUTS2

1-0051-004

chr7:
69114258-69114258

C

G

intronic

De novo

-

Yuen2017 G

AUTS2

2-1178-003

chr7:
69226444-69226444

C

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

AUTS2

2-1267-003

chr7:
70211861-70211861

A

G

intronic

De novo

-

Yuen2017 G

AUTS2

1-0344-003

chr7:
70438887-70438887

A

AAG

intergenic

De novo

-

Yuen2017 G

AUTS2

AU3175303

chr7:
69919757-69919757

A

C

intronic

De novo

-

Yuen2017 G

AUTS2

2-1255-003

chr7:
69978991-69978991

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

AUTS2

7-0140-003

chr7:
69276981-69276981

G

T

intronic

De novo

-

Yuen2017 G

AUTS2

AU050704

chr7:
70088730-70088730

C

G

intronic

De novo

-

Yuen2017 G

AUTS2

AU2756306

chr7:
70036981-70036981

A

G

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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