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Results for "SLC35B3"

Variant Events: 19

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
SLC35B3     iHART2154chr6:
8422851-8422852
TGTexonicPaternalframeshift deletionNM_001142541
NM_015948
c.425delC
c.425delC
p.P142fs
p.P142fs
-1.655E-5Ruzzo2019 G
SLC35B3     2-1213-003chr6:
8297678-8297678
GTintergenicDe novo--Yuen2017 G
SLC35B3     Codina-Sola2015:ASD_24chr6:
8421001-8421001
CTexonicMaternalstopgainNM_001142541
NM_015948
c.G635A
c.G635A
p.W212X
p.W212X
41.0-Codina-Sola2015 E
SLC35B3     7-0123-003chr6:
8232336-8232336
CTintergenicDe novo--Yuen2017 G
SLC35B3     2-1066-004chr6:
8368478-8368478
TCintergenicDe novo--Yuen2017 G
SLC35B3     SP0118566chr6:
8428090-8428090
TAintronicDe novo--Fu2022 E
SLC35B3     1-0652-003chr6:
8171578-8171578
CTintergenicDe novo--Yuen2017 G
SLC35B3     iHART2155chr6:
8422851-8422852
TGTexonicPaternalframeshift deletionNM_001142541
NM_015948
c.425delC
c.425delC
p.P142fs
p.P142fs
-1.655E-5Ruzzo2019 G
SLC35B3     1-0224-004chr6:
8184270-8184271
TGTintergenicDe novo--Yuen2017 G
SLC35B3     1-0346-004chr6:
8368478-8368478
TCintergenicDe novo--Yuen2017 G
SLC35B3     7-0166-003chr6:
8174790-8174790
CTintergenicDe novo--Yuen2017 G
SLC35B3     AU3190305chr6:
8319358-8319358
CTintergenicDe novo--Yuen2017 G
SLC35B3     AU3761301chr6:
8330724-8330724
TAintergenicDe novo--Yuen2017 G
SLC35B3     2-1378-003chr6:
8238318-8238318
GAintergenicDe novo--Yuen2017 G
SLC35B3     AU046707chr6:
8204094-8204094
TGintergenicDe novo--Yuen2017 G
SLC35B3     2-1142-003chr6:
8124484-8124484
CTintergenicDe novo--Yuen2017 G
SLC35B3     AU1542301chr6:
8283541-8283541
AGintergenicDe novo--Yuen2017 G
SLC35B3     13324.p1chr6:
8191970-8191970
GAintergenicDe novo--Turner2016 G
SLC35B3     A24chr6:
8377299-8377299
CTintergenicDe novo--Wu2018 G
Source Variant Information

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Paper alias:

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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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