Variant Results

or

Results for "IGFBP3"

Variant Events: 60

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

IGFBP3

1-0512-003

chr7:
46427076-46427076

A

G

intergenic

De novo

-

Yuen2017 G

IGFBP3

2-1313-003

chr7:
46649464-46649464

T

C

intergenic

De novo

-

Yuen2017 G

IGFBP3

2-0219-004

chr7:
46201674-46201674

G

T

intergenic

De novo

-

Yuen2017 G

IGFBP3

G01-GEA-313_HI

chr7:
46729132-46729132

T

TCGGCCGGGCGCGGTGGCTCACGC

intergenic

De novo

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

IGFBP3

2-1206-003

chr7:
46603814-46603814

G

A

intergenic

De novo

-

Yuen2017 G

IGFBP3

2-1277-004

chr7:
45962091-45962091

G

T

intergenic

De novo

-

Yuen2017 G

IGFBP3

AU2129301

chr7:
46228556-46228556

T

C

intergenic

De novo

-

Yuen2017 G

IGFBP3

2-1206-003

chr7:
46184144-46184144

A

T

intergenic

De novo

-

Yuen2017 G

IGFBP3

5-0045-003

chr7:
46331288-46331288

G

A

intergenic

De novo

-

Yuen2017 G

IGFBP3

13651.p1

chr7:
47089316-47089316

C

G

intergenic

De novo

-

Werling2018 G

IGFBP3

AU024607

chr7:
47007257-47007257

A

G

intergenic

De novo

-

Yuen2017 G

IGFBP3

1-0489-003

chr7:
46685797-46685813

AACACACACACACACAC

AACACACACACACAC

intergenic

De novo

-

Yuen2017 G

IGFBP3

2-1290-003

chr7:
46512506-46512506

T

C

intergenic

De novo

-

Yuen2017 G

IGFBP3

2-1452-003

chr7:
47122858-47122858

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

IGFBP3

AU4027306

chr7:
46196298-46196298

G

A

intergenic

De novo

-

Yuen2017 G

IGFBP3

AU4033305

chr7:
46264609-46264609

C

T

intergenic

De novo

-

Yuen2017 G

IGFBP3

AU3053301

chr7:
46860335-46860335

T

A

intergenic

De novo

-

Yuen2017 G

IGFBP3

AU4150301

chr7:
46890514-46890514

G

A

intergenic

De novo

-

Yuen2017 G

IGFBP3

2-1715-004

chr7:
46021706-46021706

C

T

intergenic

De novo

-

Yuen2017 G

IGFBP3

AU3912301

chr7:
45968742-45968742

G

A

intergenic

De novo

-

Yuen2017 G

IGFBP3

1-0339-003

chr7:
45980064-45980064

C

G

intergenic

De novo

-

Yuen2017 G

IGFBP3

5-0050-004

chr7:
47214748-47214748

A

T

intergenic

De novo

-

Yuen2017 G

IGFBP3

AU3605303

chr7:
46644911-46644911

C

A

intergenic

De novo

-

Yuen2017 G

IGFBP3

22161.p1

chr7:
45960413-45960413

G

A

exonic

synonymous SNV

NM_000598
NM_001013398

c.C327T
c.C327T

p.D109D
p.D109D

-

Zhou2022 GE

IGFBP3

1-0004-003

chr7:
46570237-46570237

A

G

intergenic

De novo

-

Yuen2017 G

IGFBP3

1-0433-004

chr7:
47150622-47150622

T

C

intergenic

De novo

-

Yuen2017 G

IGFBP3

1-0347-003

chr7:
46958026-46958026

G

C

intergenic

De novo

-

Yuen2017 G

IGFBP3

2-1212-003

chr7:
46053418-46053418

A

G

intergenic

De novo

-

Yuen2017 G

IGFBP3

2-1299-003

chr7:
46132013-46132013

C

T

intergenic

De novo

-

Yuen2017 G

IGFBP3

2-0070-004

chr7:
46645681-46645681

A

ACAACTTC

intergenic

De novo

-

Yuen2017 G

IGFBP3

AU066206

chr7:
46911725-46911731

ATTTTTT

ATTTTTTT

intergenic

De novo

-

Yuen2017 G

IGFBP3

2-0022-005

chr7:
46780744-46780744

G

A

intergenic

De novo

-

Yuen2017 G

IGFBP3

1-0186-005

chr7:
46399186-46399186

A

G

intergenic

De novo

-

Yuen2017 G

IGFBP3

1-0338-005

chr7:
46817432-46817432

G

T

intergenic

De novo

-

Yuen2017 G

IGFBP3

1-0777-003

chr7:
46866629-46866629

T

C

intergenic

De novo

-

Yuen2017 G

IGFBP3

2-0307-004

chr7:
47239887-47239887

A

T

intergenic

De novo

-

Yuen2017 G

IGFBP3

1-0609-003

chr7:
47161967-47161967

C

T

intergenic

De novo

-

Yuen2017 G

IGFBP3

AU1795301

chr7:
46229155-46229155

A

G

intergenic

De novo

-

Yuen2017 G

IGFBP3

7-0166-003

chr7:
46519517-46519517

A

G

intergenic

De novo

-

Yuen2017 G

IGFBP3

2-0223-003

chr7:
46363284-46363284

G

T

intergenic

De novo

-

Yuen2017 G

IGFBP3

AU069603

chr7:
46106259-46106259

C

T

intergenic

De novo

-

Yuen2017 G

IGFBP3

AU4164301

chr7:
46603407-46603407

T

C

intergenic

De novo

-

Yuen2017 G

IGFBP3

AU2975301

chr7:
47061684-47061684

A

G

intergenic

De novo

-

Yuen2017 G

IGFBP3

AU2381302

chr7:
45975423-45975423

C

T

intergenic

De novo

-

Yuen2017 G

IGFBP3

1-0225-003

chr7:
46046320-46046320

C

G

intergenic

De novo

-

Yuen2017 G

IGFBP3

1-0329-004

chr7:
47118990-47118990

C

A

intergenic

De novo

-

Yuen2017 G

IGFBP3

2-1143-003

chr7:
46732568-46732568

C

A

intergenic

De novo

1.751

-

Yuen2017 G
Zhou2022 GE

IGFBP3

1-0219-003

chr7:
46283016-46283016

C

T

intergenic

De novo

-

Yuen2017 G

IGFBP3

SP0169400

chr7:
45960488-45960488

G

A

exonic

De novo

synonymous SNV

NM_000598
NM_001013398

c.C252T
c.C252T

p.Y84Y
p.Y84Y

4.121

-

Trost2022 G

IGFBP3

2-1205-003

chr7:
46981384-46981399

CCTCTCTCTCTCTCTC

CCTCTCTCTCTCTC

intergenic

De novo

-

Yuen2017 G

IGFBP3

SP0112522

chr7:
45960301-45960301

G

A

intronic

De novo

-

Fu2022 E
Trost2022 G

IGFBP3

AU3874302

chr7:
46182162-46182162

A

G

intergenic

De novo

-

Yuen2017 G

IGFBP3

1-0509-003

chr7:
47242536-47242536

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

IGFBP3

1-0107-003

chr7:
46186169-46186169

T

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

IGFBP3

AU3052302

chr7:
46857045-46857045

G

A

intergenic

De novo

-

Yuen2017 G

IGFBP3

11089.p1

chr7:
46401075-46401075

T

A

intergenic

De novo

-

Turner2016 G

IGFBP3

2-1722-003

chr7:
46244044-46244044

C

G

intergenic

De novo

-

Yuen2017 G

IGFBP3

7-0106-003

chr7:
47287129-47287129

G

A

intergenic

De novo

-

Yuen2017 G

IGFBP3

2-1514-003

chr7:
46222555-46222555

G

A

intergenic

De novo

-

Yuen2017 G

IGFBP3

AU3052302

chr7:
46856334-46856334

C

T

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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