Variant Results

or

Results for "ABI3BP"

Variant Events: 46

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

ABI3BP

1-0994-003

chr3:
100702569-100702569

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ABI3BP

2-1297-003

chr3:
100934936-100934936

T

C

intergenic

De novo

-

Yuen2017 G

ABI3BP

1-0488-003

chr3:
100749526-100749526

A

G

intergenic

De novo

-

Yuen2017 G

ABI3BP

1-0551-004

chr3:
100684939-100684939

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ABI3BP

4-0062-003

chr3:
100473597-100473599

GCC

TTA

intronic

De novo

-

Trost2022 G

ABI3BP

12266.p1

chr3:
100497185-100497185

G

A

exonic

Mosaic

nonsynonymous SNV

NM_015429

c.C2143T

p.H715Y

14.9

-

Dou2017 E

ABI3BP

2-1723-003

chr3:
100525938-100525940

CCC

TGT

intronic

De novo

-

Trost2022 G

ABI3BP

29.s1

chr3:
100555977-100555977

T

C

intronic

De novo

8.64

-

An2014 E

ABI3BP

2-1397-003

chr3:
100539214-100539214

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ABI3BP

14147.p1

chr3:
100560848-100560848

T

C

intronic

5.889

-

Zhou2022 GE

ABI3BP

11484.p1

chr3:
100471643-100471643

C

T

exonic

De novo

nonsynonymous SNV

NM_015429

c.G2977A

p.D993N

34.0

5.828E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Sanders2012 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

ABI3BP

SSC02682

chr3:
100471643-100471643

C

T

exonic

De novo

nonsynonymous SNV

NM_015429

c.G2977A

p.D993N

34.0

5.828E-5

Fu2022 E
Trost2022 G

ABI3BP

AU3698301

chr3:
100642937-100642937

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ABI3BP

AU4435301

chr3:
100829723-100829723

C

T

intergenic

De novo

-

Yuen2017 G

ABI3BP

2-1246-003

chr3:
100637943-100637943

A

G

intronic

De novo

-

Trost2022 G

ABI3BP

2-0122-004

chr3:
100746482-100746482

A

C

intergenic

De novo

-

Yuen2017 G

ABI3BP

5-0038-003

chr3:
100643789-100643789

G

A

intronic

De novo

-

Trost2022 G

ABI3BP

REACH000089

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

ABI3BP

MSSNG00124-003

chr3:
100635115-100635115

C

A

intronic

De novo

-

Trost2022 G

ABI3BP

SP0150103

chr3:
100563160-100563160

A

G

intronic

De novo

-

Trost2022 G

ABI3BP

2-1807-003

chr3:
100591278-100591280

CAA

C

intronic

De novo

-

Trost2022 G

ABI3BP

SP0145763

chr3:
100539033-100539033

T

G

intronic

De novo

-

Trost2022 G

ABI3BP

MT_82.3

chr3:
100541806-100541806

T

C

intronic

De novo

-

Trost2022 G

ABI3BP

13946.p1

chr3:
100709374-100709374

T

G

intronic

De novo

-

Turner2016 G

ABI3BP

2-1195-003

chr3:
100932566-100932570

GTTTC

G

intergenic

De novo

-

Yuen2016 G

ABI3BP

Cukier2014:18074

chr3:
100585792-100585792

C

T

exonic

Unknown

nonsynonymous SNV

NM_015429

c.G940A

p.E314K

22.8

0.0074

Cukier2014 E

ABI3BP

7-0387-004

chr3:
100688731-100688731

C

T

intronic

De novo

-

Trost2022 G

ABI3BP

3-0199-000

chr3:
100650022-100650022

G

A

intronic

De novo

-

Trost2022 G

ABI3BP

1-0232-004

chr3:
100922109-100922109

C

T

intergenic

De novo

-

Yuen2017 G

ABI3BP

3-0368-000

chr3:
100660423-100660423

G

T

intronic

De novo

-

Trost2022 G

ABI3BP

mAGRE2550

chr3:
100595372-100595373

TA

T

exonic

Paternal

frameshift deletion

NM_015429

c.749delT

p.I250fs

-

9.118E-5

Cirnigliaro2023 G

ABI3BP

5-0025-004

chr3:
100570828-100570828

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ABI3BP

mAGRE2171

chr3:
100595372-100595373

TA

T

exonic

Paternal

frameshift deletion

NM_015429

c.749delT

p.I250fs

-

9.118E-5

Cirnigliaro2023 G

ABI3BP

mAGRE1073

chr3:
100593684-100593684

C

CAATTAGTTCAAGACA

splicing

Maternal

splicing

-

3.0E-4

Cirnigliaro2023 G

ABI3BP

AU3368302

chr3:
100469422-100469422

G

A

exonic

Paternal

stopgain

NM_015429

c.C3145T

p.Q1049X

37.0

-

Cirnigliaro2023 G

ABI3BP

3-0246-000

chr3:
100613059-100613059

G

T

intronic

De novo

-

Yuen2016 G

ABI3BP

AU4235303

chr3:
100797226-100797226

G

A

intergenic

De novo

-

Yuen2017 G

ABI3BP

1-0534-006

chr3:
100733157-100733157

C

T

intergenic

De novo

-

Yuen2017 G

ABI3BP

SP0073860

chr3:
100542381-100542381

C

G

intronic

De novo

-

Fu2022 E

ABI3BP

5-0128-003

chr3:
100745441-100745441

G

A

intergenic

De novo

-

Yuen2017 G

ABI3BP

AU0146301

chr3:
100904041-100904041

C

T

intergenic

De novo

-

Yuen2017 G

ABI3BP

1-0153-004

chr3:
100931506-100931506

A

G

intergenic

De novo

-

Yuen2017 G

ABI3BP

1-0044-003

chr3:
100647293-100647293

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ABI3BP

7-0143-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

ABI3BP

iHART1073

chr3:
100593684-100593684

C

CAATTAGTTCAAGACA

splicing

Maternal

splicing

-

3.0E-4

Ruzzo2019 G

ABI3BP

1-0935-003

chr3:
100900046-100900046

T

C

intergenic

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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