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Results for "IRS2"

Variant Events: 20

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
IRS2     1-0305-004chr13:
110618066-110618066
CCTintergenicDe novo--Yuen2017 G
IRS2     AU1860301chr13:
110687320-110687320
TCintergenicDe novo--Yuen2017 G
IRS2     2-1421-003chr13:
110525773-110525773
CGintergenicDe novo--Yuen2016 G
Yuen2017 G
IRS2     2-1562-004chr13:
110522232-110522232
GTintergenicDe novo--Yuen2017 G
IRS2     AU1860301chr13:
110687322-110687324
TCCTCintergenicDe novo--Yuen2017 G
IRS2     A9chr13:
110621644-110621644
AGintergenicDe novo--Wu2018 G
IRS2     AU015903chr13:
110596710-110596710
CTintergenicDe novo--Yuen2017 G
IRS2     AU2162302chr13:
110435307-110435307
GAexonicDe novononsynonymous SNVNM_003749c.C3094Tp.P1032S0.01-Yuen2017 G
IRS2     2-1114-003chr13:
110579433-110579433
GAintergenicDe novo--Yuen2017 G
IRS2     2-1417-003chr13:
110562023-110562023
GAintergenicDe novo--Yuen2017 G
IRS2     7-0248-003chr13:
110603536-110603536
CAintergenicDe novo--Yuen2017 G
IRS2     2-1089-003chr13:
110420111-110420111
GAintronicDe novo--Yuen2017 G
IRS2     A31chr13:
110572816-110572816
GAintergenicDe novo--Wu2018 G
IRS2     2-1176-003chr13:
110580556-110580556
CTintergenicDe novo--Yuen2017 G
IRS2     2-1153-003chr13:
110648410-110648410
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
IRS2     1-0296-003chr13:
110696052-110696052
ATintergenicDe novo--Yuen2017 G
IRS2     EGAN00001101018chr13:
110434485-110434485
ACexonicDe novononsynonymous SNVNM_003749c.T3916Gp.C1306G10.931.0E-4Satterstrom2020 E
IRS2     1-0683-003chr13:
110696038-110696038
CCATintergenicDe novo--Yuen2017 G
IRS2     AU2711303chr13:
110446798-110446798
CGintergenicDe novo--Yuen2017 G
IRS2     2-1415-004chr13:
110618706-110618706
TCintergenicDe novo--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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