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Results for "SLCO1B7"

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
SLCO1B7     AU2162302chr12:
21167825-21167825
GCupstreamDe novo--Yuen2017 G
SLCO1B7     1-0464-003chr12:
21273420-21273420
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
SLCO1B7     14283.p1chr12:
21200105-21200105
GAexonicMosaicsynonymous SNVNM_001009562c.G948Ap.V316V--Krupp2017 E
SLCO1B7     iHART1461chr12:
21196405-21196406
GAGexonicPaternalframeshift deletionNM_001009562c.725delAp.E242fs--Ruzzo2019 G
SLCO1B7     2-1231-003chr12:
21195028-21195028
AGintronicDe novo--Yuen2016 G
Yuen2017 G
SLCO1B7     iHART1682chr12:
21175782-21175782
AGsplicingMaternalsplicing6.0141.0E-4Ruzzo2019 G
SLCO1B7     iHART1462chr12:
21196405-21196406
GAGexonicPaternalframeshift deletionNM_001009562c.725delAp.E242fs--Ruzzo2019 G
SLCO1B7     2-1235-003chr12:
21270193-21270193
TGintergenicDe novo--Yuen2017 G
SLCO1B7     2-1632-003chr12:
21257185-21257185
CGintergenicDe novo--Yuen2017 G
SLCO1B7     iHART1685chr12:
21175782-21175782
AGsplicingMaternalsplicing6.0141.0E-4Ruzzo2019 G
Source Variant Information

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Source:

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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