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Results for "LOC100129203"

Variant Events: 33

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
LOC100129203   2-1296-003chr11:
95230250-95230250
GTintergenicDe novo--Yuen2017 G
LOC100129203   AU4465303chr11:
95186576-95186576
ACintergenicDe novo--Yuen2017 G
LOC100129203   1-0278-003chr11:
95370393-95370393
TCintergenicDe novo--Yuen2016 G
LOC100129203   7-0222-003chr11:
95136205-95136205
ACintergenicDe novo--Yuen2017 G
LOC100129203   7-0024-005chr11:
95003134-95003134
CGintergenicDe novo--Yuen2017 G
LOC100129203   2-1350-003chr11:
95224737-95224737
GAintergenicDe novo--Yuen2017 G
LOC100129203   AU003405chr11:
95394542-95394542
TAintergenicDe novo--Yuen2017 G
LOC100129203   2-1370-003chr11:
95158105-95158105
ACintergenicDe novo--Yuen2016 G
Yuen2017 G
LOC100129203   2-1635-004chr11:
95160581-95160581
TCintergenicDe novo--Yuen2017 G
LOC100129203   2-1183-003chr11:
95301388-95301388
AGintergenicDe novo--Yuen2017 G
LOC100129203   AU047904chr11:
95369039-95369039
AGintergenicDe novo--Yuen2017 G
LOC100129203   1-0126-003chr11:
95037453-95037453
GAintergenicDe novo--Yuen2017 G
LOC100129203   3-0430-000chr11:
95327846-95327846
CTintergenicDe novo--Yuen2016 G
LOC100129203   74-0075chr11:
95111231-95111231
GTintergenicInherited--Michaelson2012 G
LOC100129203   1-0290-003chr11:
95339495-95339495
GTintergenicDe novo--Yuen2017 G
LOC100129203   1-0290-003chr11:
95327122-95327122
GCintergenicDe novo--Yuen2017 G
LOC100129203   AU3779301chr11:
95086522-95086522
ACintergenicDe novo--Yuen2017 G
LOC100129203   AU4153301chr11:
95267379-95267379
AGintergenicDe novo--Yuen2017 G
LOC100129203   2-1176-003chr11:
95370331-95370331
GAintergenicDe novo--Yuen2017 G
LOC100129203   1-0112-003chr11:
95169278-95169278
TGintergenicDe novo--Yuen2017 G
LOC100129203   2-1134-003chr11:
95199902-95199902
CTintergenicDe novo--Yuen2017 G
LOC100129203   AU060703chr11:
95489630-95489630
TAintergenicDe novo--Yuen2017 G
LOC100129203   AU027506chr11:
95294520-95294520
CTintergenicDe novo--Yuen2017 G
LOC100129203   AU0146302chr11:
95361366-95361366
GAintergenicDe novo--Yuen2017 G
LOC100129203   2-1268-003chr11:
95431278-95431278
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
LOC100129203   1-0652-004chr11:
95219230-95219230
GCintergenicDe novo--Yuen2017 G
LOC100129203   1-0054-003chr11:
95371572-95371572
CAintergenicDe novo--Yuen2017 G
LOC100129203   2-1261-003chr11:
95110437-95110437
GCintergenicDe novo--Yuen2017 G
LOC100129203   1-0345-003chr11:
95188716-95188716
TCintergenicDe novo--Yuen2017 G
LOC100129203   AU054304chr11:
95362044-95362044
GAintergenicDe novo--Yuen2017 G
LOC100129203   1-0699-003chr11:
95021939-95021939
CTintergenicDe novo--Yuen2017 G
LOC100129203   5-0147-003chr11:
95032401-95032401
TCintergenicDe novo--Yuen2017 G
LOC100129203   14339.p1chr11:
95099071-95099071
TCintergenicDe novo--Werling2018 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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