Variant Results

or

Results for "SETX"

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

SETX

5-0055-004

chr9:
135144432-135144432

C

G

intronic

De novo

-

Yuen2017 G

SETX

iHART3255

chr9:
135139698-135139712

CCTGGTGTGATGGGT

C

exonic

Maternal

frameshift deletion

NM_015046

c.7948_7961del

p.T2650fs

-

Ruzzo2019 G

SETX

1-0224-004

chr9:
135148543-135148543

T

C

intronic

De novo

-

Yuen2017 G

SETX

iHART2502

chr9:
135140336-135140336

G

A

exonic

Maternal

stopgain

NM_015046

c.C7324T

p.Q2442X

49.0

-

Ruzzo2019 G

SETX

14061.p1

chr9:
135153629-135153629

C

T

exonic

De novo

nonsynonymous SNV

NM_015046

c.G6670A

p.G2224S

32.0

8.237E-6

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Turner2017 G
Wilfert2021 G

SETX

13758.p1

chr9:
135202535-135202535

C

T

exonic

De novo

nonsynonymous SNV

NM_015046

c.G4450A

p.E1484K

6.973

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E

SETX

SP0010366

chr9:
135140061-135140061

A

G

exonic

De novo

synonymous SNV

NM_015046

c.T7599C

p.H2533H

-

Fu2022 E

SETX

SSC10271

chr9:
135153629-135153629

C

T

exonic

De novo

nonsynonymous SNV

NM_015046

c.G6670A

p.G2224S

32.0

8.237E-6

Fu2022 E
Lim2017 E

SETX

G01_GEA542HI

chr9:
135205989-135205989

T

TG

intronic

De novo

-

Fu2022 E

SETX

SSC08881

chr9:
135202535-135202535

C

T

exonic

De novo

nonsynonymous SNV

NM_015046

c.G4450A

p.E1484K

6.973

-

Fu2022 E
Lim2017 E

SETX

DEASD_0042_001

chr9:
135172298-135172298

G

C

exonic

De novo

synonymous SNV

NM_015046

c.C5925G

p.G1975G

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

SETX

2-0270-004

chr9:
135178640-135178640

C

A

intronic

De novo

-

Yuen2017 G

SETX

AU2165301

chr9:
135188417-135188417

G

A

intronic

De novo

-

Yuen2017 G

SETX

07C71012

chr9:
135201741-135201741

G

A

exonic

De novo

synonymous SNV

NM_015046

c.C5244T

p.F1748F

-

Fu2022 E
Satterstrom2020 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
Curation notes	View
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