Variant Results

or

Results for "SLCO6A1"

Variant Events: 26

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

SLCO6A1

AU3857301

chr5:
101869556-101869556

C

T

intergenic

De novo

-

Yuen2017 G

SLCO6A1

2-1620-003

chr5:
101857319-101857319

A

AC

intergenic

De novo

-

Yuen2017 G

SLCO6A1

09C99936

chr5:
101794242-101794242

A

C

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

SLCO6A1

MSSNG00001-004

chr5:
101825302-101825302

T

C

intronic

De novo

-

Trost2022 G

SLCO6A1

SJD_59.3

chr5:
101831420-101831420

A

C

intronic

De novo

-

Trost2022 G

SLCO6A1

MSSNG00375-003

chr5:
101793246-101793246

C

T

intronic

De novo

-

Trost2022 G

SLCO6A1

MSSNG00031-004

chr5:
101810898-101810898

A

T

intronic

De novo

-

Trost2022 G

SLCO6A1

AU2310301

chr5:
101747598-101747598

G

A

intronic

De novo

-

Trost2022 G

SLCO6A1

7-0257-003

chr5:
101755511-101755511

T

C

intronic

De novo

-

Trost2022 G

SLCO6A1

AU2310301

chr5:
101716187-101716187

C

T

intronic

De novo

-

Trost2022 G

SLCO6A1

MSSNG00227-003

chr5:
101724855-101724855

T

C

intronic

De novo

-

Trost2022 G

SLCO6A1

DEASD_1097_001

chr5:
101815877-101815877

T

C

intronic

De novo

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SLCO6A1

2-1425-004

chr5:
101912548-101912548

G

GTTGT

intergenic

De novo

-

Yuen2017 G

SLCO6A1

5-0071-003

chr5:
101766914-101766914

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SLCO6A1

Wang2023:333

chr5:
101794099-101794099

C

T

exonic

De novo

nonsynonymous SNV

NM_001289004
NM_001289002
NM_173488

c.G932A
c.G1118A
c.G1118A

p.C311Y
p.C373Y
p.C373Y

3.96

8.273E-6

Wang2023 E

SLCO6A1

5-0077-003

chr5:
101839600-101839600

G

A

intergenic

De novo

-

Yuen2017 G

SLCO6A1

2-1690-003

chr5:
101795928-101795928

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SLCO6A1

2-1502-003

chr5:
101755748-101755748

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SLCO6A1

AU026604

chr5:
101714361-101714361

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SLCO6A1

5-0077-004

chr5:
101839600-101839600

G

A

intergenic

De novo

-

Yuen2017 G

SLCO6A1

2-1356-003

chr5:
101732447-101732447

A

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

SLCO6A1

mAGRE1440

chr5:
101811466-101811466

A

C

exonic

Paternal

stopgain

NM_001289004
NM_001308014
NM_001289002
NM_173488

c.T648G
c.T648G
c.T834G
c.T834G

p.Y216X
p.Y216X
p.Y278X
p.Y278X

17.93

4.132E-5

Cirnigliaro2023 G

SLCO6A1

2-0068-003

chr5:
101905617-101905617

T

A

intergenic

De novo

-

Yuen2017 G

SLCO6A1

PN400542

chr5:
101735368-101735368

C

T

exonic

De novo

nonsynonymous SNV

NM_001308014
NM_001289004
NM_001289002
NM_173488

c.G946A
c.G1519A
c.G1705A
c.G1705A

p.G316R
p.G507R
p.G569R
p.G569R

11.36

4.954E-5

Leblond2019 E

SLCO6A1

iHART1440

chr5:
101811466-101811466

A

C

exonic

Paternal

stopgain

NM_001289004
NM_001308014
NM_001289002
NM_173488

c.T648G
c.T648G
c.T834G
c.T834G

p.Y216X
p.Y216X
p.Y278X
p.Y278X

17.93

4.132E-5

Ruzzo2019 G

SLCO6A1

1-0636-003

chr5:
101816769-101816769

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 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
	More