Variant Results

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Results for "SLC9A4"

Variant Events: 16

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

SLC9A4

A12

chr2:
103158612-103158612

T

C

intergenic

De novo

-

-

Wu2018 G

SLC9A4

AU3637301

chr2:
103098760-103098760

C

T

intronic

De novo

-

-

Yuen2017 G

SLC9A4

1-0079-003

chr2:
103123263-103123270

CTCAACAT

C

intronic

De novo

-

-

Yuen2017 G

SLC9A4

iHART2168

chr2:
103148830-103148832

AGC

A

exonic

Paternal

frameshift deletion

NM_001011552

c.2081_2082del

p.S694fs

-

Ruzzo2019 G

SLC9A4

AU4263304

chr2:
103159126-103159126

A

G

intergenic

De novo

-

-

Yuen2017 G

SLC9A4

AU4269301

chr2:
103126234-103126234

T

A

intronic

De novo

-

-

Yuen2017 G

SLC9A4

iHART1787

chr2:
103095690-103095691

GA

G

exonic

Maternal

frameshift deletion

NM_001011552

c.650delA

p.E217fs

-

-

Ruzzo2019 G

SLC9A4

ASC_NP275

chr2:
103121747-103121747

G

C

exonic

De novo

nonsynonymous SNV

NM_001011552

c.G1015C

p.V339L

34.0

-

Fu2022 E

SLC9A4

AU2248301

chr2:
103166145-103166145

G

A

intergenic

De novo

-

-

Yuen2017 G

SLC9A4

EX08A

chr2:
103141497-103141497

C

T

exonic

De novo

synonymous SNV

NM_001011552

c.C1833T

p.N611N

-

-

Fu2022 E

SLC9A4

2-1288-003

chr2:
103219925-103219925

G

A

intergenic

De novo

-

-

Yuen2017 G

SLC9A4

Codina-Sola2015:ASD_29

chr2:
103130607-103130607

A

T

exonic

Paternal

stopgain

NM_001011552

c.A1618T

p.K540X

42.0

-

Codina-Sola2015 E

SLC9A4

AU4056302

chr2:
103128144-103128144

A

C

intronic

De novo

-

-

Yuen2017 G

SLC9A4

1-0495-003

chr2:
103169364-103169364

C

A

intergenic

De novo

-

-

Yuen2017 G

SLC9A4

AU4315302

chr2:
103164620-103164620

C

T

intergenic

De novo

-

-

Yuen2017 G

SLC9A4

1-0007-003

chr2:
103201998-103201998

T

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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