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Results for "ING2"

Variant Events: 17

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
ING2     SP0018345chr4:
184431954-184431956
AACAexonicDe novoframeshift deletionNM_001291959
NM_001564
c.573_574del
c.693_694del
p.E191fs
p.E231fs
--Feliciano2019 E
ING2     1-0139-005chr4:
184543975-184543976
AGAintergenicDe novo--Yuen2017 G
ING2     1-0075-003chr4:
184526480-184526480
GAintergenicDe novo--Yuen2017 G
ING2     2-1644-004chr4:
184543824-184543824
AAGGintergenicDe novo--Yuen2017 G
ING2     AU027506chr4:
184466039-184466039
AGintergenicDe novo--Yuen2017 G
ING2     AU3727302chr4:
184444797-184444797
GAintergenicDe novo--Yuen2017 G
ING2     2-1581-003chr4:
184447526-184447526
GAintergenicDe novo--Yuen2017 G
ING2     2-0127-004chr4:
184543879-184543879
CCAintergenicDe novo--Yuen2017 G
ING2     AU3903302chr4:
184530180-184530180
CAintergenicDe novo--Yuen2017 G
ING2     1-0433-004chr4:
184497117-184497117
TCintergenicDe novo--Yuen2017 G
ING2     1-0274-003chr4:
184543879-184543879
CCAintergenicDe novo--Yuen2017 G
ING2     7-0141-003chr4:
184524899-184524899
ATintergenicDe novo--Yuen2017 G
ING2     AU043804chr4:
184553800-184553800
TGintergenicDe novo--Yuen2017 G
ING2     1-0332-003chr4:
184543879-184543879
CCAintergenicDe novo--Yuen2017 G
ING2     1-0534-004chr4:
184543879-184543879
CCAintergenicDe novo--Yuen2017 G
ING2     2-1132-003chr4:
184510591-184510591
CCATintergenicDe novo--Yuen2017 G
ING2     1-0412-003chr4:
184528740-184528740
CTintergenicDe 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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