Variant Results

or

or

Results for "NLGN4X"

Variant Events: 21

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

NLGN4X

2-1300-003

chrX:
6235578-6235578

C

T

intergenic

De novo

-

-

Yuen2017 G

NLGN4X

1-0269-005

chrX:
5944823-5944823

C

T

intronic

De novo

-

-

Yuen2017 G

NLGN4X

3-0456-000B

chrX:
5897762-5897792

TATATGTGTGTATATATACACACATACATAT

TATAT

intronic

De novo

-

-

Yuen2017 G

NLGN4X

1-0303-003

chrX:
5835004-5835004

G

A

intronic

De novo

-

-

Yuen2017 G

NLGN4X

2-0109-003

chrX:
5980275-5980275

C

T

intronic

De novo

-

-

Yuen2017 G

NLGN4X

5-0088-003

chrX:
6286309-6286309

T

A

intergenic

De novo

-

-

Yuen2017 G

NLGN4X

211-5274-3

chrX:
5821899-5821899

G

A

exonic

Maternal

stopgain

NM_001282146
NM_020742
NM_181332
NM_001282145

c.C820T
c.C820T
c.C820T
c.C820T

p.Q274X
p.Q274X
p.Q274X
p.Q274X

44.0

-

Stessman2017 T

NLGN4X

2-1507-003

chrX:
6163214-6163237

TGTGTGTGTGTGCGTGTGTGTGTG

TGTGTGTGTGTG

intergenic

De novo

-

-

Yuen2017 G

NLGN4X

AU3517301

chrX:
6263882-6263882

G

A

intergenic

De novo

-

-

Yuen2017 G

NLGN4X

7-0192-003

chrX:
6032353-6032353

T

A

intronic

De novo

-

-

Yuen2017 G

NLGN4X

AU4069301

chrX:
5907211-5907216

TTGTGT

TTGT

intronic

De novo

-

-

Yuen2017 G

NLGN4X

11274.p1

chrX:
5821113-5821113

C

T

intronic

-

-

Zhou2022 GE

NLGN4X

2-1264-003

chrX:
6258087-6258087

T

C

intergenic

De novo

-

-

Yuen2017 G

NLGN4X

AU006804

chrX:
5995481-5995481

C

A

intronic

De novo

-

-

Yuen2017 G

NLGN4X

1-0433-003

chrX:
6013405-6013405

G

C

intronic

De novo

-

-

Yuen2017 G

NLGN4X

AU-5700

chrX:
5821734-5821734

G

A

exonic

Inherited

stopgain

NM_001282146
NM_020742
NM_181332
NM_001282145

c.C985T
c.C985T
c.C985T
c.C985T

p.Q329X
p.Q329X
p.Q329X
p.Q329X

44.0

-

Yu2013 E

NLGN4X

AU-13400

chrX:
5811012-5811012

C

T

exonic

Inherited

nonsynonymous SNV

NM_001282146
NM_020742
NM_181332
NM_001282145

c.G2297A
c.G2297A
c.G2297A
c.G2297A

p.R766Q
p.R766Q
p.R766Q
p.R766Q

18.08

-

Yu2013 E

NLGN4X

04C37153

chrX:
5827153-5827154

AA

A

exonic

Unknown

frameshift deletion

NM_001282146
NM_020742
NM_181332
NM_001282145

c.752delT
c.752delT
c.752delT
c.752delT

p.F251fs
p.F251fs
p.F251fs
p.F251fs

-

-

Stessman2017 T

NLGN4X

04C37154

chrX:
5827153-5827154

AA

A

exonic

Unknown

frameshift deletion

NM_001282146
NM_020742
NM_181332
NM_001282145

c.752delT
c.752delT
c.752delT
c.752delT

p.F251fs
p.F251fs
p.F251fs
p.F251fs

-

-

Stessman2017 T

NLGN4X

AU2495302

chrX:
6278161-6278161

G

C

intergenic

De novo

-

-

Yuen2017 G

NLGN4X

5-0033-004

chrX:
5927987-5927987

A

G

intronic

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
	More