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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     A09006-2chr15:
99500484-99500484
AGexonicUnknownnonsynonymous SNVNM_000875
NM_001291858
c.A3917G
c.A3914G
p.D1306G
p.D1305G
27.6-Li2017 T
IGF1R     2-0129-005chr15:
99205673-99205673
TCintronicDe novo--Yuen2017 G
IGF1R     AU2029302chr15:
99291014-99291014
GCintronicDe novo--Yuen2017 G
IGF1R     1-0701-003chr15:
99299389-99299389
AGintronicDe novo--Yuen2017 G
IGF1R     AU2863303chr15:
99419222-99419222
TCintronicDe novo--Yuen2017 G
IGF1R     Li2017:17682chr15:
99500576-99500576
CTexonicUnknownnonsynonymous SNVNM_000875
NM_001291858
c.C4009T
c.C4006T
p.R1337C
p.R1336C
12.084.0E-4Li2017 T
IGF1R     AU2756306chr15:
99452898-99452898
CTintronicDe novo--Yuen2017 G
IGF1R     AU2863303chr15:
99198331-99198336
ACCCCCACCCCCCintronicDe novo--Yuen2017 G
IGF1R     2-1466-003chr15:
99358454-99358454
CGintronicDe novo--Yuen2016 G
Yuen2017 G
IGF1R     A12chr15:
99386715-99386715
AGintronicDe novo--Wu2018 G
IGF1R     2-1380-003chr15:
99312082-99312082
AGintronicDe novo--Yuen2017 G
IGF1R     5-0148-003chr15:
99260759-99260759
GAintronicDe novo--Yuen2017 G
IGF1R     5-0050-003chr15:
99374692-99374692
CTintronicDe novo--Yuen2017 G
IGF1R     5-0050-003chr15:
99382899-99382899
GTintronicDe novo--Yuen2017 G
IGF1R     AU2029303chr15:
99291014-99291014
GCintronicDe novo--Yuen2017 G
IGF1R     AU3888302chr15:
99503804-99503804
TCUTR3De novo--Yuen2017 G
IGF1R     Li2017:15042chr15:
99500637-99500637
GAexonicUnknownnonsynonymous SNVNM_000875
NM_001291858
c.G4070A
c.G4067A
p.R1357Q
p.R1356Q
35.05.978E-5Li2017 T
IGF1R     7-0127-003chr15:
99509272-99509272
AGintergenicDe novo--Yuen2017 G
IGF1R     13102.p1chr15:
99251260-99251260
GAexonicDe novosynonymous SNVNM_000875
NM_001291858
c.G564A
c.G564A
p.E188E
p.E188E
-1.0E-4Krumm2015 E
IGF1R     Li2017:18369chr15:
99500478-99500495
CCCTGGACCCCTCGGCCTCexonicUnknownframeshift deletionNM_000875
NM_001291858
c.3912_3928del
c.3909_3925del
p.P1304fs
p.P1303fs
--Li2017 T
IGF1R     AU3951302chr15:
99380788-99380788
CAintronicDe novo--Yuen2017 G
IGF1R     Li2017:18415chr15:
99454580-99454580
CTexonicUnknownnonsynonymous SNVNM_000875
NM_001291858
c.C1499T
c.C1499T
p.T500M
p.T500M
35.05.767E-5Li2017 T
IGF1R     1-0412-003chr15:
99427565-99427565
TCintronicDe novo--Yuen2017 G
IGF1R     1-0382-003chr15:
99411758-99411767
GTTACGAGAAGintronicDe novo--Yuen2017 G
IGF1R     111302chr15:
99491924-99491924
TAexonicnonsynonymous SNVNM_000875
NM_001291858
c.T3709A
c.T3706A
p.C1237S
p.C1236S
31.05.771E-5Woodbury-Smith2022 E
IGF1R     1-0556-003chr15:
99408858-99408858
TCintronicDe novo--Yuen2017 G
IGF1R     2-1174-005Bchr15:
99240672-99240672
CTintronicDe novo--Yuen2017 G
IGF1R     2-1389-003chr15:
99427322-99427322
GAintronicDe novo--Yuen2016 G
Yuen2017 G
Source Variant Information

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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 notesView
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