Variant Results

or

Results for "PUS7"

Variant Events: 16

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

PUS7

13641.p1

chr7:
105108895-105108895

G

A

exonic

De novo

nonsynonymous SNV

NM_019042

c.C1414T

p.R472C

21.2

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

PUS7

AU2288301

chr7:
105137899-105137899

A

T

intronic

De novo

-

Trost2022 G

PUS7

2-1192-003

chr7:
105145508-105145509

TA

CT

intronic

De novo

-

Trost2022 G

PUS7

1-0928-003

chr7:
105124163-105124163

G

A

intronic

De novo

-

Trost2022 G

PUS7

1-1160-003

chr7:
105129644-105129644

T

A

intronic

De novo

-

Trost2022 G

PUS7

1-1100-003

chr7:
105117499-105117499

C

A

intronic

De novo

-

Trost2022 G

PUS7

AU2129303

chr7:
105161150-105161150

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PUS7

3-0454-000

chr7:
105118432-105118432

A

G

intronic

De novo

-

Trost2022 G

PUS7

1-0674-004

chr7:
105156578-105156578

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PUS7

13641_p1

chr7:
105108895-105108895

G

A

exonic

De novo

nonsynonymous SNV

NM_019042

c.C1414T

p.R472C

21.2

-

Fu2022 E

PUS7

2-0297-003

chr7:
105115835-105115835

T

G

intronic

De novo

-

Trost2022 G

PUS7

1-0868-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

PUS7

2-1192-003

chr7:
105145516-105145517

CT

TG

intronic

De novo

-

Trost2022 G

PUS7

2-1184-003

chr7:
105100546-105100546

C

T

intronic

De novo

-

Yuen2017 G

PUS7

2-1398-003

chr7:
105108995-105108995

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PUS7

7-0024-005

chr7:
105117164-105117164

C

G

intronic

De novo

-

Trost2022 G
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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