Variant Results

or

Results for "SLCO4A1"

Variant Events: 29

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

SLCO4A1

2-0295-004

chr20:
61176983-61176983

G

C

intergenic

De novo

-

Yuen2017 G

SLCO4A1

2-0043-003

chr20:
61203422-61203422

C

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SLCO4A1

1-0246-004

chr20:
61182701-61182701

G

GTGACACACAAACACTTTATATGACAGACACACATCCCTCA

intergenic

De novo

-

Yuen2017 G

SLCO4A1

1-0551-004

chr20:
61180622-61180622

C

CATTT

intergenic

De novo

-

Yuen2017 G

SLCO4A1

5-0103-003

chr20:
61209383-61209383

T

C

intergenic

De novo

-

Yuen2017 G

SLCO4A1

5-0039-003

chr20:
61288445-61288445

C

T

exonic

De novo

synonymous SNV

NM_016354

c.C639T

p.G213G

-

3.026E-5

Trost2022 G
Zhou2022 GE

SLCO4A1

2-0309-004

chr20:
61275162-61275162

T

C

intronic

De novo

-

Trost2022 G

SLCO4A1

AU3765303

chr20:
61299828-61299828

G

T

splicing

Paternal

splicing

14.84

-

Cirnigliaro2023 G

SLCO4A1

AU3765302

chr20:
61299828-61299828

G

T

splicing

Paternal

splicing

14.84

-

Cirnigliaro2023 G

SLCO4A1

SP0009759

chr20:
61303564-61303564

G

A

UTR3

De novo

-

Trost2022 G

SLCO4A1

REACH000731

chr20:
61302642-61302642

C

T

intronic

De novo

-

Trost2022 G

SLCO4A1

2-1431-003

chr20:
61198849-61198849

G

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SLCO4A1

J4K7A_01

chr20:
61298859-61298859

G

A

intronic

De novo

-

Trost2022 G

SLCO4A1

MSSNG00421-009

chr20:
61290534-61290536

TAG

T

intronic

De novo

-

Trost2022 G

SLCO4A1

MSSNG00374-003

chr20:
61286245-61286245

C

T

intronic

De novo

-

Trost2022 G

SLCO4A1

MSSNG00331-003

chr20:
61280845-61280845

A

G

intronic

De novo

-

Trost2022 G

SLCO4A1

2-1430-005A

chr20:
61276112-61276112

T

C

intronic

De novo

-

Trost2022 G

SLCO4A1

2-0309-004

chr20:
61275165-61275168

AATG

GCA

intronic

De novo

-

Trost2022 G

SLCO4A1

1-0197-003

chr20:
61327486-61327486

C

G

intergenic

De novo

-

Yuen2017 G

SLCO4A1

1-0141-003

chr20:
61182221-61182221

T

C

intergenic

De novo

-

Yuen2017 G

SLCO4A1

2-1425-003

chr20:
61275165-61275165

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SLCO4A1

1-0526-003

chr20:
61182391-61182391

C

A

intergenic

De novo

-

Yuen2017 G

SLCO4A1

SP0009759

chr20:
61303470-61303470

T

C

UTR3

De novo

-

Fu2022 E
Trost2022 G

SLCO4A1

SP0071647

chr20:
61292393-61292393

C

CCCCCCCCCCCCCCCCCAAAAAA

intronic

De novo

-

Fu2022 E

SLCO4A1

12719.p1

chr20:
61303111-61303111

G

A

exonic

De novo

nonsynonymous SNV

NM_016354

c.G2035A

p.V679I

0.012

2.0E-4

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

SLCO4A1

2-0142-004

chr20:
61270572-61270572

G

C

intergenic

De novo

-

Yuen2017 G

SLCO4A1

2-0143-004

chr20:
61182701-61182701

G

GTGACACACAAACACTTTATATGACAGACACACATCCCTCA

intergenic

De novo

-

Yuen2017 G

SLCO4A1

2-1620-003

chr20:
61205636-61205638

AAT

A

intergenic

De novo

-

Yuen2017 G

SLCO4A1

SP0030019

chr20:
61292393-61292393

C

CCCCCCCCCCCCCCACACAA

intronic

De novo

-

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
	More