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Results for "LOC728730"

Variant Events: 18

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
LOC728730    AU3680302chr2:
39826044-39826044
CTncRNA_intronicDe novo--Yuen2017 G
LOC728730    1-0004-003chr2:
39780634-39780634
TCncRNA_intronicDe novo--Yuen2017 G
LOC728730    12175.p1chr2:
39802206-39802206
CTncRNA_intronicDe novo--Turner2016 G
LOC728730    REACH000171chr2:
39665172-39665172
TCncRNA_intronicDe novo--Trost2022 G
LOC728730    2-1148-004chr2:
39755342-39755342
TCncRNA_intronicDe novo--Yuen2017 G
LOC728730    7-0175-003chr2:
39683408-39683417
CAAGGGTGAACAAncRNA_intronicDe novo--Yuen2017 G
LOC728730    AU2123301chr2:
39672801-39672801
CTncRNA_intronicDe novo--Yuen2017 G
LOC728730    AU2123301chr2:
39685454-39685454
GTncRNA_intronicDe novo--Yuen2017 G
LOC728730    AU4260303chr2:
39733004-39733004
GTncRNA_intronicDe novo--Yuen2017 G
LOC728730    74-0115chr2:
39878592-39878592
CGintergenicDe novo--Michaelson2012 G
LOC728730    2-0300-003chr2:
39815844-39815844
TAncRNA_intronicDe novo--Yuen2017 G
LOC728730    AU4029301chr2:
39767929-39767929
ATncRNA_intronicDe novo--Yuen2017 G
LOC728730    2-0300-003chr2:
39814571-39814571
CGncRNA_intronicDe novo--Yuen2017 G
LOC728730    1-0417-003chr2:
39881351-39881351
GCintergenicDe novo--Yuen2017 G
LOC728730    2-1180-003 Complex Event; expand row to view variants  De novo--Yuen2017 G
Yuen2017 G
LOC728730    1-0272-004chr2:
39782357-39782357
CTncRNA_intronicDe novo--Yuen2017 G
LOC728730    1-0158-012chr2:
39755255-39755255
ATncRNA_intronicDe novo--Yuen2017 G
LOC728730    1-0380-003chr2:
39679214-39679214
AGncRNA_intronicDe 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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