Variant Results

or

or

Results for "SLCO5A1"

Variant Events: 23

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

SLCO5A1

A26

chr8:
70755955-70755955

G

A

intergenic

De novo

-

-

Wu2018 G

SLCO5A1

2-1561-003

chr8:
70943343-70943343

T

C

intergenic

De novo

-

-

Yuen2017 G

SLCO5A1

13023.p1

chr8:
70668091-70668091

T

C

intronic

De novo

-

-

Turner2016 G

SLCO5A1

AU4479301

chr8:
70751075-70751075

T

C

intergenic

De novo

-

-

Yuen2017 G

SLCO5A1

AU4479301

chr8:
70751115-70751115

G

A

intergenic

De novo

-

-

Yuen2017 G

SLCO5A1

AU4433301

chr8:
70779798-70779798

G

A

intergenic

De novo

-

-

Yuen2017 G

SLCO5A1

3-0515-000

chr8:
70586764-70586764

C

T

intronic

De novo

-

-

Trost2022 G

SLCO5A1

1-0436-003

chr8:
70762428-70762428

C

T

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

SLCO5A1

1-0560-003

chr8:
70697332-70697348

GGAGAGAGAGAGAGAGA

GGAGAGAGAGAGAGA

intronic

De novo

-

-

Yuen2017 G

SLCO5A1

2-1132-003

chr8:
70673466-70673466

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SLCO5A1

5-0095-003

chr8:
70950924-70950924

G

A

intergenic

De novo

-

-

Yuen2017 G

SLCO5A1

74-0481

chr8:
70650428-70650428

C

T

exonic

Inherited

nonsynonymous SNV

NM_001146008
NM_030958

c.G1270A
c.G1270A

p.A424T
p.A424T

33.0

-

Patowary2019 E

SLCO5A1

1-0323-004

chr8:
70957943-70957943

G

A

intergenic

De novo

-

-

Yuen2017 G

SLCO5A1

1-0019-004

chr8:
70647541-70647541

G

A

intronic

De novo

-

-

Yuen2017 G

SLCO5A1

7-0438-003

chr8:
70722114-70722119

TGACAA

T

intronic

De novo

-

-

Trost2022 G

SLCO5A1

2-1339-003

chr8:
70739671-70739672

AA

GG

intronic

De novo

-

-

Trost2022 G

SLCO5A1

MSSNG00400-003

chr8:
70659818-70659818

C

G

intronic

De novo

-

-

Trost2022 G

SLCO5A1

A8

chr8:
70783948-70783948

C

T

intergenic

De novo

-

-

Wu2018 G

SLCO5A1

1-0563-003

chr8:
70935515-70935515

A

G

intergenic

De novo

-

-

Yuen2017 G

SLCO5A1

REACH000714

chr8:
70687719-70687719

C

T

intronic

De novo

-

-

Trost2022 G

SLCO5A1

2-0007-004

chr8:
70909247-70909247

T

A

intergenic

De novo

-

-

Yuen2017 G

SLCO5A1

2-1359-004

chr8:
70632952-70632952

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SLCO5A1

5-0111-003

chr8:
70754069-70754075

AGGCAGC

A

intergenic

De novo

-

-

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
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