Variant Results

or

Results for "SLCO1B3"

Variant Events: 28

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

SLCO1B3

1-0563-004

chr12:
21054412-21054412

G

A

intronic

De novo

-

3.0E-4

Tan2024 GE
Trost2022 G
Yuen2017 G

SLCO1B3

mAGRE4421

chr12:
21051435-21051435

G

A

splicing

Maternal

splicing

7.822

-

Cirnigliaro2023 G

SLCO1B3

mAGRE5513

chr12:
21033955-21033955

G

A

splicing

Maternal

splicing

13.08

-

Cirnigliaro2023 G

SLCO1B3

SP0022270

chr12:
21008080-21008080

T

TAATTG

exonic

De novo

frameshift insertion

NM_019844

c.203_204insAATTG

p.L68fs

-

0.0046

Trost2022 G

SLCO1B3

3-0102-000

chr12:
21041701-21041701

C

T

intronic

De novo

-

Trost2022 G

SLCO1B3

AU2194301

chr12:
20975611-20975612

AG

A

intronic

De novo

-

Trost2022 G

SLCO1B3

iHART2446

chr12:
21014019-21014019

T

A

exonic

Maternal

stopgain

NM_019844

c.T428A

p.L143X

14.02

-

Ruzzo2019 G

SLCO1B3

2-1358-003

chr12:
21021394-21021394

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SLCO1B3

1-0473-003

chr12:
21030095-21030095

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SLCO1B3

iHART1862

chr12:
21028293-21028297

TAAAC

T

exonic

Maternal

frameshift deletion

NM_019844

c.853_856del

p.K285fs

-

3.0E-4

Ruzzo2019 G

SLCO1B3

2-1508-003

chr12:
21095858-21095858

T

C

intergenic

De novo

-

Yuen2017 G

SLCO1B3

DEASD_0327_001

chr12:
21028412-21028412

G

A

splicing

De novo

splicing

12.19

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Tan2024 GE
Trost2022 G
Zhou2022 GE

SLCO1B3

5-0026-003

chr12:
21055870-21055871

TG

GTAA

intronic

De novo

-

Trost2022 G

SLCO1B3

SSC12346

chr12:
21069032-21069032

A

G

exonic

De novo

nonsynonymous SNV

NM_019844

c.A1960G

p.K654E

9.911

-

Fu2022 E
Trost2022 G

SLCO1B3

SSC12398

chr12:
20968676-20968676

G

A

exonic

De novo

nonsynonymous SNV

NM_019844

c.G4A

p.D2N

15.41

-

Fu2022 E

SLCO1B3

2-1196-003

chr12:
20973983-20973983

G

A

intronic

De novo

-

Yuen2017 G

SLCO1B3

1-0563-003

chr12:
21054412-21054412

G

A

intronic

De novo

-

3.0E-4

Tan2024 GE
Trost2022 G
Yuen2017 G

SLCO1B3

1-0756-003

chr12:
21135158-21135158

A

AT

intergenic

De novo

-

Yuen2017 G

SLCO1B3

14676.p1

chr12:
21069032-21069032

A

G

exonic

De novo

nonsynonymous SNV

NM_019844

c.A1960G

p.K654E

9.911

-

Krumm2015 E
Satterstrom2020 E
Zhou2022 GE

SLCO1B3

SP0005184

chr12:
21069052-21069052

C

T

exonic

De novo

synonymous SNV

NM_019844

c.C1980T

p.D660D

-

2.492E-5

Fu2022 E
Zhou2022 GE

SLCO1B3

AU076509

chr12:
21095779-21095779

A

C

intergenic

De novo

-

Yuen2017 G

SLCO1B3

mAGRE5512

chr12:
21033955-21033955

G

A

splicing

Maternal

splicing

13.08

-

Cirnigliaro2023 G

SLCO1B3

mAGRE1862

chr12:
21028293-21028297

TAAAC

T

exonic

Maternal

frameshift deletion

NM_019844

c.853_856del

p.K285fs

-

3.0E-4

Cirnigliaro2023 G

SLCO1B3

mAGRE2446

chr12:
21014019-21014019

T

A

exonic

Maternal

stopgain

NM_019844

c.T428A

p.L143X

14.02

-

Cirnigliaro2023 G

SLCO1B3

2-1644-003

chr12:
21075675-21075675

C

T

intergenic

De novo

-

Yuen2017 G

SLCO1B3

IBS-ASD-12773-blood-wgs-ILLUMINA

chr12:
21153681-21153681

G

A

intergenic

De novo

-

Kim2024 G

SLCO1B3

IBS-ASD-5113-blood-wgs-ILLUMINA

chr12:
21145501-21145501

A

G

intergenic

De novo

-

Kim2024 G

SLCO1B3

IBS-ASD-18733-blood-wgs-ILLUMINA

chr12:
21012424-21012424

T

TGCCCC

intronic

De novo

-

Kim2024 G

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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