Variant Results

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Results for "SLC9A8"

Variant Events: 14

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

SLC9A8

MSSNG00100-003

chr20:
48509595-48509596

TC

T

downstream

De novo

-

-

Trost2022 G

SLC9A8

7-0279-003

chr20:
48501748-48501748

C

T

intronic

De novo

-

-

Trost2022 G

SLC9A8

1-0269-005

chr20:
48455302-48455302

C

T

intronic

De novo

-

-

Yuen2017 G

SLC9A8

SSC06096

chr20:
48494487-48494488

GT

G

intronic

De novo

-

-

Trost2022 G

SLC9A8

SP0030399

chr20:
48431752-48431752

T

C

intronic

De novo

-

-

Fu2022 E
Trost2022 G

SLC9A8

1-1000-003A

chr20:
48482273-48482273

G

A

intronic

De novo

-

-

Trost2022 G

SLC9A8

MSSNG00412-003

chr20:
48446755-48446757

TCA

T

intronic

De novo

-

-

Trost2022 G

SLC9A8

MSSNG00023-004

chr20:
48430035-48430035

C

T

intronic

De novo

-

-

Trost2022 G

SLC9A8

1-1000-003

chr20:
48482273-48482273

G

A

intronic

De novo

-

-

Yuen2017 G

SLC9A8

1-0336-003

chr20:
48454582-48454582

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SLC9A8

12773.p1

chr20:
48429507-48429509

CGG

C

intronic

De novo

-

-

Iossifov2014 E
Kosmicki2017 E

SLC9A8

12899.p1

chr20:
48494487-48494488

GT

G

intronic

De novo

-

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

SLC9A8

mAGRE5134

chr20:
48500562-48500563

AG

A

exonic

Paternal

frameshift deletion

NM_001260491
NM_015266

c.1499delG
c.1451delG

p.R500fs
p.R484fs

-

-

Cirnigliaro2023 G

SLC9A8

2-1357-004

chr20:
48503317-48503317

C

T

exonic

De novo

nonsynonymous SNV

NM_001260491
NM_015266

c.C1568T
c.C1520T

p.S523L
p.S507L

31.0

-

Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE

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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