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Results for "OCRL"

Variant Events: 10

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
OCRL     AU2410302chrX:
128771276-128771276
CTintergenicDe novo--Yuen2017 G
OCRL     1-0756-004chrX:
128733015-128733015
GAintergenicDe novo--Yuen2017 G
OCRL     2-0704-003chrX:
128681523-128681530
AAAAGAAAAAAAintronicDe novo--Yuen2017 G
OCRL     Chen2021:66chrX:
128710340-128710342
TGTTexonicMaternalframeshift deletionNM_000276
NM_001587
c.1927_1928del
c.1927_1928del
p.V643fs
p.V643fs
--Chen2021 GET
OCRL     B0627chrX:
128710340-128710342
TGTTexonicMaternalframeshift deletionNM_000276
NM_001587
c.1927_1928del
c.1927_1928del
p.V643fs
p.V643fs
--Xiong2019 ET
OCRL     AU1019301chrX:
128709230-128709230
GAintronicUnknown-2.405E-5Chahrour2012 E
OCRL     2-0143-005chrX:
128696388-128696388
AGexonicDe novononsynonymous SNVNM_000276
NM_001587
c.A967G
c.A967G
p.M323V
p.M323V
19.34-Yuen2015 G
OCRL     AU3787303chrX:
128683737-128683737
GAintronicDe novo--Yuen2017 G
OCRL     AU031403chrX:
128715840-128715847
CTCTGTCTCTCTintronicDe novo--Yuen2017 G
OCRL     1-0972-003chrX:
128768005-128768005
GAintergenicDe 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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