Variant Results

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Results for "SLC9A3"

Variant Events: 13

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

SLC9A3

MSSNG00100-003

chr5:
498843-498843

C

T

intronic

De novo

-

-

Trost2022 G

SLC9A3

AU4310301

chr5:
484203-484203

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SLC9A3

AU4310301

chr5:
484207-484207

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SLC9A3

SP0130795

chr5:
485315-485315

G

A

exonic

De novo

nonsynonymous SNV

NM_001284351
NM_004174

c.C707T
c.C707T

p.A236V
p.A236V

8.52

Fu2022 E
Trost2022 G
Zhou2022 GE

SLC9A3

AU1933302

chr5:
512714-512714

T

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SLC9A3

13221.p1

chr5:
479989-479989

C

T

exonic

De novo

nonsynonymous SNV

NM_001284351
NM_004174

c.G1582A
c.G1609A

p.E528K
p.E537K

13.17

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

SLC9A3

11368.p1

chr5:
475122-475123

AG

A

exonic

De novo

frameshift deletion

NM_001284351
NM_004174

c.2349delC
c.2376delC

p.P783fs
p.P792fs

-

-

Ji2016 E
Krumm2015 E

SLC9A3

SP0013534

chr5:
482670-482670

A

G

exonic

De novo

nonsynonymous SNV

NM_001284351
NM_004174

c.T1349C
c.T1349C

p.I450T
p.I450T

15.72

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

SLC9A3

AU3849303

chr5:
497623-497623

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SLC9A3

SP0044610

chr5:
492033-492033

G

C

exonic

De novo

nonsynonymous SNV

NM_001284351
NM_004174

c.C365G
c.C365G

p.P122R
p.P122R

14.73

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

SLC9A3

SSC07185

chr5:
479989-479989

C

T

exonic

De novo

nonsynonymous SNV

NM_001284351
NM_004174

c.G1582A
c.G1609A

p.E528K
p.E537K

13.17

Fu2022 E
Trost2022 G

SLC9A3

AU003405

chr5:
518857-518857

G

A

intronic

De novo

-

-

Yuen2017 G

SLC9A3

13023.p1

chr5:
528802-528802

G

C

intergenic

De novo

-

-

Turner2016 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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