Variant Results

or

Results for "SLC22A23"

Variant Events: 33

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

SLC22A23

10C109043

chr6:
3285152-3285152

A

G

intronic

De novo

-

Satterstrom2020 E

SLC22A23

2-1415-004

chr6:
3719987-3719987

G

A

intergenic

De novo

-

Yuen2017 G

SLC22A23

2-1206-003

chr6:
3626300-3626300

G

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SLC22A23

2-1066-003

chr6:
3595951-3595951

G

GATGT

intergenic

De novo

-

Yuen2017 G

SLC22A23

5-0083-003

chr6:
3399802-3399802

C

T

intronic

De novo

-

Yuen2017 G

SLC22A23

3-0169-000

chr6:
3466637-3466637

G

A

intergenic

De novo

-

Yuen2016 G

SLC22A23

2-1117-003

chr6:
3527953-3527953

G

T

intergenic

De novo

-

Yuen2016 G

SLC22A23

5-0055-003

chr6:
3342857-3342857

A

G

intronic

De novo

-

Yuen2017 G

SLC22A23

1-0452-003

chr6:
3530554-3530554

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SLC22A23

AU4145303

chr6:
3462981-3462981

C

T

intergenic

De novo

-

Yuen2017 G

SLC22A23

2-1451-003

chr6:
3630889-3630889

A

G

intergenic

De novo

-

Yuen2017 G

SLC22A23

2-1155-003

chr6:
3519067-3519067

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SLC22A23

AU3125301

chr6:
3638029-3638029

A

G

intergenic

De novo

-

Yuen2017 G

SLC22A23

1-0489-003

chr6:
3602580-3602580

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SLC22A23

2-1364-003

chr6:
3291434-3291434

G

C

intronic

De novo

-

Yuen2017 G

SLC22A23

2-1364-003

chr6:
3273775-3273775

C

T

intronic

De novo

-

Yuen2017 G

SLC22A23

12498.p1

chr6:
3545537-3545537

T

A

intergenic

De novo

-

Turner2016 G

SLC22A23

1-0467-003

chr6:
3618619-3618619

T

A

intergenic

De novo

-

Yuen2017 G

SLC22A23

SP0093095

chr6:
3445259-3445259

G

A

intronic

De novo

-

Fu2022 E

SLC22A23

2-1066-004

chr6:
3595951-3595951

G

GATGT

intergenic

De novo

-

Yuen2017 G

SLC22A23

1-0453-003

chr6:
3514830-3514830

G

T

intergenic

De novo

-

Yuen2017 G

SLC22A23

1-0244-003

chr6:
3687856-3687856

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SLC22A23

2-1137-003

chr6:
3339075-3339075

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

SLC22A23

1-0045-004

chr6:
3418089-3418089

A

G

intronic

De novo

-

Yuen2017 G

SLC22A23

5-0123-003

chr6:
3323412-3323412

A

T

intronic

De novo

-

Yuen2017 G

SLC22A23

12821.p1

chr6:
3273379-3273379

C

T

exonic

De novo

synonymous SNV

NM_001286455
NM_015482
NM_021945

c.G1128A
c.G1971A
c.G1128A

p.E376E
p.E657E
p.E376E

-

Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

SLC22A23

AU2975302

chr6:
3538463-3538463

C

T

intergenic

De novo

-

Yuen2017 G

SLC22A23

SSC05931

chr6:
3273379-3273379

C

T

exonic

De novo

synonymous SNV

NM_001286455
NM_015482
NM_021945

c.G1128A
c.G1971A
c.G1128A

p.E376E
p.E657E
p.E376E

-

Fu2022 E
Lim2017 E

SLC22A23

1-0443-003

chr6:
3285152-3285152

A

G

intronic

De novo

-

Yuen2016 G

SLC22A23

DEASD_0405_001

chr6:
3273431-3273431

G

A

exonic

De novo

nonsynonymous SNV

NM_001286455
NM_015482
NM_021945

c.C1076T
c.C1919T
c.C1076T

p.P359L
p.P640L
p.P359L

19.78

8.347E-6

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

SLC22A23

UK10K_SKUSE5080165

chr6:
3284159-3284171

CCACGATGGAAAA

C

exonic

De novo

nonframeshift deletion

NM_001286455
NM_015482
NM_021945

c.775_786del
c.1618_1629del
c.775_786del

p.259_262del
p.540_543del
p.259_262del

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E

SLC22A23

1-0558-003

chr6:
3304934-3304934

G

C

intronic

De novo

-

Yuen2017 G

SLC22A23

AU4347301

chr6:
3547058-3547058

T

C

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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