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Results for "IGF1"

Variant Events: 21

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
IGF1     1-0139-003chr12:
103041501-103041501
GAintergenicDe novo--Yuen2017 G
IGF1     1-0412-003chr12:
102798621-102798621
TCintronicDe novo--Yuen2017 G
IGF1     AU4496301chr12:
102957170-102957170
AGintergenicDe novo--Yuen2017 G
IGF1     1-0559-003chr12:
102814538-102814539
CTCintronicDe novo--Yuen2017 G
IGF1     1-0044-003chr12:
102798726-102798726
GAintronicDe novo--Yuen2017 G
IGF1     AU3506302chr12:
102930178-102930178
ATintergenicDe novo--Yuen2017 G
IGF1     1-0534-003chr12:
102979286-102979286
AGintergenicDe novo--Yuen2017 G
IGF1     1-0455-004chr12:
102798621-102798621
TCintronicDe novo--Yuen2017 G
IGF1     AU3905301chr12:
102832531-102832531
ACintronicDe novo--Yuen2017 G
IGF1     1-0325-003chr12:
103014177-103014177
CTintergenicDe novo--Yuen2017 G
IGF1     1-0277-003chr12:
102846336-102846336
GCintronicDe novo--Yuen2016 G
Yuen2017 G
IGF1     7-0135-003chr12:
103148439-103148439
CTintergenicDe novo--Yuen2017 G
IGF1     5-0106-003chr12:
103156541-103156541
AGintergenicDe novo--Yuen2017 G
IGF1     2-0309-005chr12:
102798905-102798905
AGintronicDe novo--Yuen2017 G
IGF1     3-0065-000chr12:
102863180-102863180
GAintronicDe novo--Yuen2017 G
IGF1     1-0756-005chr12:
102828439-102828439
AACCCintronicDe novo--Yuen2017 G
IGF1     1-0265-003chr12:
103044331-103044331
GAintergenicDe novo--Yuen2017 G
IGF1     2-1409-003chr12:
102856406-102856406
CTintronicDe novo--Yuen2016 G
Yuen2017 G
IGF1     1-0265-004chr12:
103044331-103044331
GAintergenicDe novo--Yuen2017 G
IGF1     2-1408-003chr12:
102802817-102802817
GTintronicDe novo--Yuen2017 G
IGF1     ASD006chr12:
102813438-102813438
CTexonicDe novononsynonymous SNVNM_000618
NM_001111283
NM_001111284
c.G251A
c.G251A
c.G203A
p.R84Q
p.R84Q
p.R68Q
36.0-Tran2020 E
Wu2019 E
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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