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Results for "LOC100129620"

Variant Events: 16

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
LOC100129620    1-0010-005chr1:
99701352-99701352
TCintergenicDe novo--Yuen2017 G
LOC100129620    2-1620-004chr1:
99570557-99570558
GTGncRNA_intronicDe novo--Yuen2017 G
LOC100129620    7-0127-003chr1:
99610364-99610364
TCncRNA_intronicDe novo--Yuen2017 G
LOC100129620    1-0469-003chr1:
99565030-99565030
GCncRNA_intronicDe novo--Yuen2017 G
LOC100129620    14224.p1chr1:
99601894-99601894
CTncRNA_intronicDe novo--Wilfert2021 G
LOC100129620    AU070007chr1:
99546374-99546374
TGncRNA_intronicDe novo--Yuen2017 G
LOC100129620    1-0530-003chr1:
99515998-99515998
GAncRNA_intronicDe novo--Yuen2016 G
Yuen2017 G
LOC100129620    2-1290-003chr1:
99610364-99610364
TCncRNA_intronicDe novo--Yuen2017 G
LOC100129620    2-0028-003chr1:
99635038-99635038
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
LOC100129620    AU074403chr1:
99605410-99605410
AGncRNA_intronicDe novo--Yuen2017 G
LOC100129620    3-0140-000chr1:
99713860-99713860
AGintergenicDe novo--Yuen2017 G
LOC100129620    AU3790301chr1:
99558038-99558038
ATncRNA_intronicDe novo--Yuen2017 G
LOC100129620    2-1066-004chr1:
99610364-99610364
TCncRNA_intronicDe novo--Yuen2017 G
LOC100129620    3-0428-000chr1:
99483209-99483209
GAncRNA_intronicDe novo--Yuen2016 G
Yuen2017 G
LOC100129620    1-0763-003chr1:
99610364-99610364
TCncRNA_intronicDe novo--Yuen2017 G
LOC100129620    2-1182-003chr1:
99532635-99532635
ACncRNA_intronicDe novo--Yuen2016 G
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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