Variant Results

or

or

Results for "SETD7"

Variant Events: 24

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

SETD7

SP0022378

chr4:
140432998-140432998

C

T

splicing

De novo

splicing

17.69

-

Fu2022 E
Trost2022 G
Zhou2022 GE

SETD7

1-1165-003

chr4:
140461117-140461117

A

C

intronic

De novo

-

-

Trost2022 G

SETD7

7-0240-004

chr4:
140468768-140468768

G

A

intronic

De novo

-

-

Trost2022 G

SETD7

1-0945-003

chr4:
140447524-140447524

C

T

intronic

De novo

-

-

Trost2022 G

SETD7

1-0232-004

chr4:
140492977-140492977

T

C

intergenic

De novo

-

-

Yuen2017 G

SETD7

7-0097-003

chr4:
140423407-140423407

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SETD7

REACH000349

chr4:
140453101-140453101

A

G

intronic

De novo

-

-

Trost2022 G

SETD7

1-0285-004

chr4:
140504053-140504053

C

A

intergenic

De novo

-

-

Yuen2017 G

SETD7

1-1204-004

chr4:
140418788-140418788

G

A

intronic

De novo

-

-

Trost2022 G

SETD7

2-1743-004A

chr4:
140421827-140421827

T

A

intronic

De novo

-

-

Trost2022 G

SETD7

1-0465-003a

chr4:
140576663-140576663

A

C

intergenic

De novo

-

-

Yuen2017 G

SETD7

2-1427-003

chr4:
140539163-140539163

T

G

intergenic

De novo

-

-

Yuen2017 G

SETD7

7-0080-003

chr4:
140452545-140452545

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SETD7

27.s1

chr4:
140428120-140428120

G

A

UTR3

De novo

-

-

An2014 E

SETD7

1-0465-003

chr4:
140576663-140576663

A

C

intergenic

De novo

-

-

Yuen2017 G

SETD7

3-0802-000

chr4:
140474486-140474486

A

AG

intronic

De novo

-

-

Trost2022 G

SETD7

mAGRE5681

chr4:
140432863-140432863

C

T

exonic

Paternal

stopgain

NM_030648

c.G1055A

p.W352X

43.0

Cirnigliaro2023 G

SETD7

AU0780302

chr4:
140566928-140566928

C

A

intergenic

De novo

-

-

Yuen2017 G

SETD7

13191.p1

chr4:
140558572-140558572

C

CAAA

intergenic

De novo

-

-

Werling2018 G

SETD7

2-1184-003

chr4:
140426962-140426962

G

A

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

SETD7

AU2109301

chr4:
140472063-140472063

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SETD7

DEASD_1020_001

chr4:
140454347-140454347

C

T

exonic

De novo

nonsynonymous SNV

NM_001306199
NM_001306200
NM_030648

c.G344A
c.G344A
c.G344A

p.R115H
p.R115H
p.R115H

34.0

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SETD7

DEASD_2002_002

chr4:
140432934-140432934

A

G

exonic

De novo

synonymous SNV

NM_030648

c.T984C

p.D328D

-

-

Fu2022 E

SETD7

1-0674-003

chr4:
140487933-140487933

A

G

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
	More