Variant Results

or

or

Results for "BEND4"

Variant Events: 20

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

BEND4

A20

chr4:
42256848-42256848

A

G

intergenic

De novo

-

-

Wu2018 G

BEND4

14109.p1

chr4:
42340193-42340193

G

T

intergenic

De novo

-

-

Wilfert2021 G

BEND4

AU1795303

chr4:
42303445-42303445

C

T

intergenic

De novo

-

-

Yuen2017 G

BEND4

11225.p1

chr4:
42153747-42153747

A

G

exonic

synonymous SNV

NM_001159547
NM_207406

c.T414C
c.T414C

p.Y138Y
p.Y138Y

-

Zhou2022 GE

BEND4

4-0084-003

chr4:
42152507-42152507

C

T

intronic

De novo

-

-

Trost2022 G

BEND4

2-0305-004

chr4:
42294449-42294450

TG

T

intergenic

De novo

-

-

Yuen2017 G

BEND4

2-1195-003

chr4:
42285265-42285265

G

A

intergenic

De novo

-

-

Yuen2016 G

BEND4

1-0330-003

chr4:
42161952-42161952

C

T

intergenic

De novo

-

-

Yuen2017 G

BEND4

AU4306302

chr4:
42251753-42251753

A

G

intergenic

De novo

-

-

Yuen2017 G

BEND4

1-0336-004

chr4:
42147638-42147638

G

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

BEND4

Codina-Sola2015:ASD_16

chr4:
42119582-42119582

G

A

exonic

Maternal

stopgain

NM_207406

c.C1558T

p.Q520X

40.0

-

Codina-Sola2015 E

BEND4

AU008505

chr4:
42294311-42294311

A

G

intergenic

De novo

-

-

Yuen2017 G

BEND4

AU2072302

chr4:
42308786-42308786

C

T

intergenic

De novo

-

-

Yuen2017 G

BEND4

AU3716301

chr4:
42236359-42236359

A

T

intergenic

De novo

-

-

Yuen2017 G

BEND4

AU3779304

chr4:
42157323-42157323

C

T

intergenic

De novo

-

-

Yuen2017 G

BEND4

MSSNG00015-003

chr4:
42132962-42132962

C

T

intronic

De novo

-

-

Trost2022 G

BEND4

2-1724-003

chr4:
42141728-42141728

C

CTAA

intronic

De novo

-

-

Trost2022 G

BEND4

3-0432-000

chr4:
42245159-42245159

C

T

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

BEND4

5-0077-004

chr4:
42299155-42299155

C

A

intergenic

De novo

-

-

Yuen2017 G

BEND4

1-0401-003

chr4:
42206032-42206032

T

TA

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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