Variant Results

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Results for "SLCO1B7"

Variant Events: 11

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

AU2162302

chr12:
21167825-21167825

G

C

upstream

De novo

-

-

Yuen2017 G

SLCO1B7

14283.p1

chr12:
21200105-21200105

G

A

exonic

Mosaic

synonymous SNV

NM_001009562

c.G948A

p.V316V

-

-

Krupp2017 E

SLCO1B7

iHART1461

chr12:
21196405-21196406

GA

G

exonic

Paternal

frameshift deletion

NM_001009562

c.725delA

p.E242fs

-

-

Ruzzo2019 G

SLCO1B7

2-1231-003

chr12:
21195028-21195028

A

G

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

SLCO1B7

iHART1682

chr12:
21175782-21175782

A

G

splicing

Maternal

splicing

6.014

Ruzzo2019 G

SLCO1B7

iHART1462

chr12:
21196405-21196406

GA

G

exonic

Paternal

frameshift deletion

NM_001009562

c.725delA

p.E242fs

-

-

Ruzzo2019 G

SLCO1B7

2-1235-003

chr12:
21270193-21270193

T

G

intergenic

De novo

-

-

Yuen2017 G

SLCO1B7

2-1632-003

chr12:
21257185-21257185

C

G

intergenic

De novo

-

-

Yuen2017 G

SLCO1B7

iHART1685

chr12:
21175782-21175782

A

G

splicing

Maternal

splicing

6.014

Ruzzo2019 G

SLCO1B7

1-0464-003

chr12:
21273420-21273420

A

G

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

SLCO1B7

SP0051880

chr12:
21176127-21176127

T

A

exonic

De novo

synonymous SNV

NM_001009562

c.T492A

p.T164T

-

-

Fu2022 E

Source Variant Information

, -

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 notes	View
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