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Results for "LOC400940"

Variant Events: 27

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
LOC400940   2-1254-003chr2:
6283907-6283907
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
LOC400940   2-1719-003chr2:
6292212-6292212
TCintergenicDe novo--Yuen2017 G
LOC400940   AU2000302chr2:
6208399-6208399
GAintergenicDe novo--Yuen2017 G
LOC400940   AU4154303chr2:
6307372-6307372
GAintergenicDe novo--Yuen2017 G
LOC400940   2-1371-003chr2:
6122193-6122193
GCncRNA_exonicDe novo--Yuen2016 G
Yuen2017 G
LOC400940   2-0098-003chr2:
6216534-6216534
GCintergenicDe novo--Yuen2016 G
Yuen2017 G
LOC400940   2-1276-003chr2:
6375169-6375169
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
LOC400940   2-1196-003chr2:
6130809-6130809
GTintergenicDe novo--Yuen2017 G
LOC400940   AU3858303chr2:
6350200-6350200
CGintergenicDe novo--Yuen2017 G
LOC400940   1-0079-008chr2:
6225376-6225376
GTintergenicDe novo--Yuen2017 G
LOC400940   AU071204chr2:
6346662-6346662
ACintergenicDe novo--Yuen2017 G
LOC400940   1-0113-003chr2:
6204532-6204532
AGintergenicDe novo--Yuen2016 G
LOC400940   1-0388-003chr2:
6424569-6424569
CTintergenicDe novo--Yuen2017 G
LOC400940   AU4029302chr2:
6376742-6376742
GAintergenicDe novo--Yuen2017 G
LOC400940   AU3874302chr2:
6188487-6188487
TAintergenicDe novo--Yuen2017 G
LOC400940   AU017304chr2:
6298196-6298196
GAintergenicDe novo--Yuen2017 G
LOC400940   1-0530-003chr2:
6267731-6267731
GTintergenicDe novo--Yuen2016 G
Yuen2017 G
LOC400940   2-1425-003chr2:
6291179-6291179
ACintergenicDe novo--Yuen2017 G
LOC400940   A14chr2:
6130680-6130680
CTintergenicDe novo--Wu2018 G
LOC400940   7-0024-003chr2:
6492131-6492131
CAintergenicDe novo--Yuen2017 G
LOC400940   AU4032305chr2:
6345552-6345552
CAintergenicDe novo--Yuen2017 G
LOC400940   2-1251-003chr2:
6264648-6264648
GAintergenicDe novo--Yuen2017 G
LOC400940   AU4032305chr2:
6345554-6345554
TGintergenicDe novo--Yuen2017 G
LOC400940   5-0041-003chr2:
6397244-6397244
AGintergenicDe novo--Yuen2017 G
LOC400940   7-0192-003chr2:
6162958-6162958
GAintergenicDe novo--Yuen2017 G
LOC400940   12795.p1chr2:
6221848-6221848
CAintergenicDe novo--Turner2016 G
LOC400940   AU1725302chr2:
6463249-6463254
TAAAAATAAAAintergenicDe 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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