Variant Results

or

Results for "DSG3"

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

DSG3

SP0118556

chr18:
29036951-29036951

A

G

intronic

De novo

-

8.346E-6

Fu2022 E
Trost2022 G
Zhou2022 GE

DSG3

5-0065-003

chr18:
29073588-29073588

A

AATCAGCTGCT

intergenic

De novo

-

Yuen2017 G

DSG3

AU1668302

chr18:
29070093-29070100

TGTGAGGT

TGT

intergenic

De novo

-

Yuen2017 G

DSG3

1-0868-003

chr18:
29070180-29070180

A

C

intergenic

De novo

-

Yuen2017 G

DSG3

11042.p1

Complex Event; expand row to view variants

De novo

frameshift insertion

NM_001944
NM_001944

c.2560dupA
c.2560dupA

p.F853fs
p.K854fs

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DSG3

1-0158-003

chr18:
29073471-29073471

C

T

intergenic

De novo

-

Yuen2017 G

DSG3

2-1399-003

chr18:
29054894-29054894

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

DSG3

EGAN00001101153

chr18:
29039892-29039892

A

G

exonic

De novo

nonsynonymous SNV

NM_001944

c.A602G

p.Q201R

22.7

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DSG3

2-1297-004

chr18:
29073471-29073471

C

T

intergenic

De novo

-

Yuen2017 G

DSG3

111305

chr18:
29056164-29056164

C

T

exonic

stopgain

NM_001944

c.C2941T

p.Q981X

32.0

-

Woodbury-Smith2022 E

DSG3

REACH000735

chr18:
29057850-29057850

C

T

UTR3

De novo

-

Trost2022 G

DSG3

1-1134-003

chr18:
29058775-29058775

G

A

downstream

De novo

-

Trost2022 G

DSG3

SP0215925

chr18:
29040020-29040020

T

C

intronic

De novo

-

Trost2022 G

DSG3

SP0090671

chr18:
29056002-29056002

C

T

exonic

De novo

stopgain

NM_001944

c.C2779T

p.Q927X

39.0

-

Trost2022 G

DSG3

7-0385-003

chr18:
29035602-29035602

G

A

intronic

De novo

-

Trost2022 G

DSG3

SP0227323

chr18:
29039011-29039011

C

G

exonic

De novo

nonsynonymous SNV

NM_001944

c.C388G

p.L130V

15.6

-

Trost2022 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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