Variant Results

or

Results for "ABR"

Variant Events: 75

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

ABR

1-0161-004

chr17:
1123324-1123324

G

A

intergenic

De novo

-

Yuen2017 G

ABR

AU3955303

chr17:
932518-932518

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ABR

2-1094-004

chr17:
1123324-1123324

G

A

intergenic

De novo

-

Yuen2017 G

ABR

A21

chr17:
930716-930716

C

T

intronic

De novo

-

Wu2018 G

ABR

2-1169-004

chr17:
980028-980028

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ABR

AU050704

chr17:
1086068-1086068

C

T

intronic

De novo

-

Yuen2017 G

ABR

AU2029301

chr17:
926305-926305

C

A

intronic

De novo

-

Trost2022 G

ABR

2-1549-003

chr17:
915963-915963

G

A

exonic

De novo

synonymous SNV

NM_001256847
NM_001282149
NM_001092
NM_001159746
NM_021962

c.C279T
c.C1272T
c.C1815T
c.C1788T
c.C1926T

p.T93T
p.T424T
p.T605T
p.T596T
p.T642T

-

0.011

Trost2022 G

ABR

7-0233-003

chr17:
919866-919875

CATTTCTAAA

C

intronic

De novo

-

Trost2022 G

ABR

SJD_68.3

chr17:
954508-954508

C

T

intronic

De novo

-

Trost2022 G

ABR

1-0400-003

chr17:
966242-966242

G

A

intronic

De novo

-

Trost2022 G

ABR

AU2697301

chr17:
941002-941002

C

T

intronic

De novo

-

Trost2022 G

ABR

7-0335-003

chr17:
941430-941430

C

A

intronic

De novo

-

Trost2022 G

ABR

SP0044117

chr17:
935088-935088

G

C

intronic

De novo

-

Trost2022 G

ABR

G01-GEA-106-HI

chr17:
915893-915893

G

A

intronic

De novo

-

4.0E-4

Satterstrom2020 E
Trost2022 G

ABR

AU055603

chr17:
938254-938254

G

A

intronic

De novo

-

Trost2022 G

ABR

MSSNG00396-003

chr17:
927688-927688

C

T

intronic

De novo

-

Trost2022 G

ABR

MSSNG00399-003

chr17:
931586-931586

G

A

intronic

De novo

-

Trost2022 G

ABR

1005

chr17:
1020310-1020310

A

C

intronic

De novo

-

Trost2022 G

ABR

3-0374-000

chr17:
1026585-1026585

C

T

intronic

De novo

-

Trost2022 G

ABR

SP0050169

chr17:
1012362-1012362

C

A

intronic

De novo

-

Trost2022 G

ABR

AU1308303

chr17:
1018394-1018394

C

T

intronic

De novo

-

Trost2022 G

ABR

SP0107417

chr17:
982293-982293

G

C

UTR5

De novo

-

Trost2022 G

ABR

11002.p1

Complex Event; expand row to view variants

De novo

-

Turner2016 G
Turner2016 G

ABR

1-0206-003

chr17:
1007131-1007131

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ABR

2-0142-004

chr17:
1046325-1046325

G

A

intronic

De novo

-

Yuen2017 G

ABR

REACH000428

chr17:
990324-990324

C

T

intronic

De novo

-

Trost2022 G

ABR

1-1238-003

chr17:
971275-971275

C

T

intronic

De novo

-

Trost2022 G

ABR

MSSNG00354-003

chr17:
980229-980229

G

A

intronic

De novo

-

Trost2022 G

ABR

AU075703

chr17:
1105839-1105839

T

C

intergenic

De novo

-

Trost2022 G
Yuen2017 G

ABR

AU2320301

chr17:
1104157-1104157

C

A

intergenic

De novo

-

Trost2022 G

ABR

ASDFI_1144

chr17:
976938-976938

A

G

intronic

De novo

-

1.244E-5

Satterstrom2020 E
Trost2022 G

ABR

MSSNG00344-003

chr17:
1114281-1114283

CAG

C

intergenic

De novo

-

Trost2022 G

ABR

11002.p1

chr17:
1002278-1002278

C

G

intronic

De novo

-

Turner2016 G

ABR

1-0840-003

chr17:
1092411-1092411

G

A

intergenic

De novo

-

Trost2022 G

ABR

1-0289-004

chr17:
1102921-1102922

TC

GT

intergenic

De novo

-

Trost2022 G

ABR

2-1811-003

chr17:
1065910-1065910

C

A

intronic

De novo

-

Trost2022 G

ABR

1-0153-004

chr17:
1123375-1123375

G

A

intergenic

De novo

-

Yuen2017 G

ABR

3-0091-000

chr17:
1081565-1081565

A

G

intronic

De novo

-

Trost2022 G

ABR

5-0058-003

chr17:
1027639-1027639

G

A

intronic

De novo

-

Trost2022 G

ABR

7-0441-003

chr17:
1037732-1037732

T

C

intronic

De novo

-

Trost2022 G

ABR

2-0299-003

chr17:
1122440-1122440

A

G

intergenic

De novo

-

Trost2022 G

ABR

2-0299-003

chr17:
1122451-1122451

C

T

intergenic

De novo

-

Trost2022 G

ABR

mAGRE5114

chr17:
976864-976864

C

T

splicing

Maternal

splicing

14.84

-

Cirnigliaro2023 G

ABR

9-0010-003

chr17:
1115449-1115450

AT

GC

intergenic

De novo

-

Trost2022 G

ABR

2-0299-003

chr17:
1122437-1122437

G

A

intergenic

De novo

-

Trost2022 G

ABR

1-0079-003

chr17:
1122444-1122444

A

C

intergenic

De novo

-

Trost2022 G
Yuen2017 G

ABR

1-0079-003

chr17:
1115245-1115248

ACAA

GGGC

intergenic

De novo

-

Trost2022 G

ABR

1-0172-005

chr17:
1115449-1115450

AT

GC

intergenic

De novo

-

Trost2022 G

ABR

1-0455-003

chr17:
1115233-1115233

T

G

intergenic

De novo

-

Trost2022 G

ABR

2-1166-003

chr17:
1042396-1042396

G

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ABR

1-0455-003

chr17:
1115236-1115238

TGT

CGC

intergenic

De novo

-

Trost2022 G

ABR

SJD_55.3

chr17:
1123381-1123381

C

T

intergenic

De novo

-

Trost2022 G

ABR

1-0751-003

chr17:
1109928-1109928

T

A

intergenic

De novo

-

Trost2022 G
Yuen2017 G

ABR

44981

chr17:
1003915-1003915

C

T

exonic

De novo

nonsynonymous SNV

NM_001092
NM_001159746
NM_021962

c.G196A
c.G169A
c.G307A

p.E66K
p.E57K
p.E103K

33.0

8.237E-6

Fu2022 E
Trost2022 G

ABR

SP0039802

chr17:
915120-915120

C

T

exonic

De novo

synonymous SNV

NM_001256847
NM_001282149
NM_001092
NM_001159746
NM_021962

c.G420A
c.G1413A
c.G1956A
c.G1929A
c.G2067A

p.T140T
p.T471T
p.T652T
p.T643T
p.T689T

-

3.0E-4

Trost2022 G
Zhou2022 GE

ABR

AU4465303

chr17:
1063962-1063962

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ABR

2-1345-003

chr17:
966644-966644

A

C

intronic

De novo

-

Yuen2017 G

ABR

SSC00468

chr17:
1003915-1003915

C

T

exonic

nonsynonymous SNV

NM_001092
NM_001159746
NM_021962

c.G196A
c.G169A
c.G307A

p.E66K
p.E57K
p.E103K

33.0

8.237E-6

Antaki2022 GE

ABR

SSC11456

chr17:
916389-916389

C

T

exonic

De novo

nonsynonymous SNV

NM_001256847
NM_001282149
NM_001092
NM_001159746
NM_021962

c.G160A
c.G1153A
c.G1696A
c.G1669A
c.G1807A

p.V54M
p.V385M
p.V566M
p.V557M
p.V603M

21.0

8.258E-6

Fu2022 E
Lim2017 E

ABR

1-0862-003

chr17:
912809-912809

C

A

intronic

De novo

-

Yuen2017 G

ABR

1-0394-003

chr17:
1130529-1130529

G

A

intergenic

De novo

-

Trost2022 G
Yuen2017 G

ABR

1-0534-006

chr17:
1123375-1123375

G

A

intergenic

De novo

-

Yuen2017 G

ABR

Lim2017:44981

chr17:
1003915-1003915

C

T

exonic

De novo

nonsynonymous SNV

NM_001092
NM_001159746
NM_021962

c.G196A
c.G169A
c.G307A

p.E66K
p.E57K
p.E103K

33.0

8.237E-6

Lim2017 E

ABR

2-0299-005

chr17:
1036408-1036408

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ABR

1-0385-003

chr17:
1087859-1087859

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ABR

14359.p1

chr17:
916389-916389

C

T

exonic

De novo

nonsynonymous SNV

NM_001256847
NM_001282149
NM_001092
NM_001159746
NM_021962

c.G160A
c.G1153A
c.G1696A
c.G1669A
c.G1807A

p.V54M
p.V385M
p.V566M
p.V557M
p.V603M

21.0

8.258E-6

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Wilfert2021 G
Zhou2022 GE

ABR

AU3713301

chr17:
940314-940314

C

T

intronic

De novo

-

Yuen2017 G

ABR

11142.p1

chr17:
1003915-1003915

C

T

exonic

De novo

nonsynonymous SNV

NM_001092
NM_001159746
NM_021962

c.G196A
c.G169A
c.G307A

p.E66K
p.E57K
p.E103K

33.0

8.237E-6

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Turner2017 G
Wilfert2021 G
Zhou2022 GE

ABR

AU4122301

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

ABR

AU1940304

chr17:
934684-934684

C

G

intronic

De novo

-

Yuen2017 G

ABR

AU1795303

chr17:
915638-915638

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ABR

5-0026-003

chr17:
1123534-1123534

A

G

intergenic

De novo

-

Yuen2017 G

ABR

AU4153301

chr17:
966918-966918

T

C

intronic

De novo

-

Yuen2017 G

ABR

SP0076269

chr17:
935088-935088

G

GCCTCCCTCCCTCCCTCCCTCCCTCCCCGCGCTCC

intronic

De novo

-

Fu2022 E

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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