Variant Results

or

Results for "IGF1R"

Variant Events: 28

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

IGF1R

A09006-2

chr15:
99500484-99500484

A

G

exonic

Unknown

nonsynonymous SNV

NM_000875
NM_001291858

c.A3917G
c.A3914G

p.D1306G
p.D1305G

27.6

-

Li2017 T

IGF1R

2-0129-005

chr15:
99205673-99205673

T

C

intronic

De novo

-

Yuen2017 G

IGF1R

AU2029302

chr15:
99291014-99291014

G

C

intronic

De novo

-

Yuen2017 G

IGF1R

1-0701-003

chr15:
99299389-99299389

A

G

intronic

De novo

-

Yuen2017 G

IGF1R

AU2863303

chr15:
99419222-99419222

T

C

intronic

De novo

-

Yuen2017 G

IGF1R

Li2017:17682

chr15:
99500576-99500576

C

T

exonic

Unknown

nonsynonymous SNV

NM_000875
NM_001291858

c.C4009T
c.C4006T

p.R1337C
p.R1336C

12.08

4.0E-4

Li2017 T

IGF1R

AU2756306

chr15:
99452898-99452898

C

T

intronic

De novo

-

Yuen2017 G

IGF1R

AU2863303

chr15:
99198331-99198336

ACCCCC

ACCCCCC

intronic

De novo

-

Yuen2017 G

IGF1R

2-1466-003

chr15:
99358454-99358454

C

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

IGF1R

A12

chr15:
99386715-99386715

A

G

intronic

De novo

-

Wu2018 G

IGF1R

2-1380-003

chr15:
99312082-99312082

A

G

intronic

De novo

-

Yuen2017 G

IGF1R

5-0148-003

chr15:
99260759-99260759

G

A

intronic

De novo

-

Yuen2017 G

IGF1R

5-0050-003

chr15:
99374692-99374692

C

T

intronic

De novo

-

Yuen2017 G

IGF1R

5-0050-003

chr15:
99382899-99382899

G

T

intronic

De novo

-

Yuen2017 G

IGF1R

AU2029303

chr15:
99291014-99291014

G

C

intronic

De novo

-

Yuen2017 G

IGF1R

AU3888302

chr15:
99503804-99503804

T

C

UTR3

De novo

-

Yuen2017 G

IGF1R

Li2017:15042

chr15:
99500637-99500637

G

A

exonic

Unknown

nonsynonymous SNV

NM_000875
NM_001291858

c.G4070A
c.G4067A

p.R1357Q
p.R1356Q

35.0

5.978E-5

Li2017 T

IGF1R

7-0127-003

chr15:
99509272-99509272

A

G

intergenic

De novo

-

Yuen2017 G

IGF1R

13102.p1

chr15:
99251260-99251260

G

A

exonic

De novo

synonymous SNV

NM_000875
NM_001291858

c.G564A
c.G564A

p.E188E
p.E188E

-

1.0E-4

Krumm2015 E

IGF1R

Li2017:18369

chr15:
99500478-99500495

CCCTGGACCCCTCGGCCT

C

exonic

Unknown

frameshift deletion

NM_000875
NM_001291858

c.3912_3928del
c.3909_3925del

p.P1304fs
p.P1303fs

-

Li2017 T

IGF1R

AU3951302

chr15:
99380788-99380788

C

A

intronic

De novo

-

Yuen2017 G

IGF1R

Li2017:18415

chr15:
99454580-99454580

C

T

exonic

Unknown

nonsynonymous SNV

NM_000875
NM_001291858

c.C1499T
c.C1499T

p.T500M
p.T500M

35.0

5.767E-5

Li2017 T

IGF1R

1-0412-003

chr15:
99427565-99427565

T

C

intronic

De novo

-

Yuen2017 G

IGF1R

1-0382-003

chr15:
99411758-99411767

GTTACGAGAA

G

intronic

De novo

-

Yuen2017 G

IGF1R

111302

chr15:
99491924-99491924

T

A

exonic

nonsynonymous SNV

NM_000875
NM_001291858

c.T3709A
c.T3706A

p.C1237S
p.C1236S

31.0

5.771E-5

Woodbury-Smith2022 E

IGF1R

1-0556-003

chr15:
99408858-99408858

T

C

intronic

De novo

-

Yuen2017 G

IGF1R

2-1174-005B

chr15:
99240672-99240672

C

T

intronic

De novo

-

Yuen2017 G

IGF1R

2-1389-003

chr15:
99427322-99427322

G

A

intronic

De novo

-

Yuen2016 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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