Variant Results

or

Results for "SLC22A9"

Variant Events: 18

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

SLC22A9

11942.p1

chr11:
63177286-63177286

C

G

exonic

De novo

synonymous SNV

NM_080866

c.C1614G

p.P538P

-

8.333E-6

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

SLC22A9

11241.p1

chr11:
63177324-63177324

C

T

exonic

De novo

nonsynonymous SNV

NM_080866

c.C1652T

p.T551M

13.28

1.0E-4

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Sanders2012 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

SLC22A9

11241_p1

chr11:
63177324-63177324

C

T

exonic

De novo

nonsynonymous SNV

NM_080866

c.C1652T

p.T551M

13.28

1.0E-4

Fu2022 E

SLC22A9

3-0080-000

chr11:
63156277-63156277

G

C

intronic

De novo

-

Yuen2017 G

SLC22A9

mAGRE2949

chr11:
63143219-63143221

CAG

C

exonic

Paternal

frameshift deletion

NM_080866

c.934_935del

p.R312fs

-

Cirnigliaro2023 G

SLC22A9

mAGRE1876

chr11:
63137548-63137549

TG

T

exonic

Paternal

frameshift deletion

NM_080866

c.21delG

p.L7fs

-

1.705E-5

Cirnigliaro2023 G

SLC22A9

mAGRE1268

chr11:
63137548-63137549

TG

T

exonic

Paternal

frameshift deletion

NM_080866

c.21delG

p.L7fs

-

1.705E-5

Cirnigliaro2023 G

SLC22A9

SP0247048

chr11:
63137650-63137650

C

G

exonic

De novo

nonsynonymous SNV

NM_080866

c.C122G

p.T41S

1.448

-

Trost2022 G

SLC22A9

3-0090-001

chr11:
63145757-63145757

A

G

intronic

De novo

-

Trost2022 G

SLC22A9

AU1635302

chr11:
63166654-63166654

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SLC22A9

1-0373-003

chr11:
63213134-63213134

A

T

intergenic

De novo

-

Yuen2017 G

SLC22A9

7-0197-003

chr11:
63178097-63178104

AAAGAAGA

AAAGA

downstream

De novo

-

Yuen2017 G

SLC22A9

11942_p1

chr11:
63177286-63177286

C

G

exonic

De novo

synonymous SNV

NM_080866

c.C1614G

p.P538P

-

8.333E-6

Fu2022 E

SLC22A9

AU4410302

chr11:
63189161-63189161

G

C

intergenic

De novo

-

Yuen2017 G

SLC22A9

088-08-109366

chr11:
63177309-63177309

C

T

exonic

De novo

nonsynonymous SNV

NM_080866

c.C1637T

p.P546L

3.308

2.492E-5

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SLC22A9

2-1251-003

chr11:
63157973-63157973

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SLC22A9

iHART2949

chr11:
63143219-63143221

CAG

C

exonic

Paternal

frameshift deletion

NM_080866

c.934_935del

p.R312fs

-

Ruzzo2019 G

SLC22A9

12598.p1

chr11:
63141410-63141410

T

C

exonic

De novo

synonymous SNV

NM_080866

c.T706C

p.L236L

4.262

0.0013

Iossifov2014 E
Kosmicki2017 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
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