Variant Results

or

Results for "GCOM1"

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

GCOM1

1-0373-003

chr15:
58014546-58014546

A

G

intergenic

De novo

-

Yuen2017 G

GCOM1

SD0708013_33

chr15:
57924768-57924768

T

C

intronic

De novo

-

Fu2022 E

GCOM1

AU08903

chr15:
57913816-57913816

C

T

exonic

De novo

nonsynonymous SNV

NM_001018090
NM_001018091
NM_001018100
NM_001285900
NM_152451

c.C329T
c.C329T
c.C329T
c.C329T
c.C329T

p.T110I
p.T110I
p.T110I
p.T110I
p.T110I

21.2

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

GCOM1

SP0018301

chr15:
57896593-57896593

C

T

intronic

De novo

-

Fu2022 E

GCOM1

1-0777-003

chr15:
58121370-58121370

T

C

intergenic

De novo

-

Yuen2017 G

GCOM1

AU4219302

chr15:
57906545-57906545

G

T

intronic

De novo

-

Yuen2017 G

GCOM1

08C76793

chr15:
58004208-58004208

C

A

exonic

De novo

nonsynonymous SNV

NM_001018102
NM_015532
NM_001018090
NM_001285900

c.C314A
c.C785A
c.C1331A
c.C1976A

p.S105Y
p.S262Y
p.S444Y
p.S659Y

14.74

-

Fu2022 E
Satterstrom2020 E

GCOM1

2-1278-003

chr15:
58053461-58053461

G

T

intergenic

De novo

-

Yuen2017 G

GCOM1

2-1741-003

chr15:
58123090-58123090

A

G

intergenic

De novo

-

Yuen2017 G

GCOM1

AU1795301

chr15:
58034182-58034182

G

C

intergenic

De novo

-

Yuen2017 G

GCOM1

6265

chr15:
58001002-58001005

TAGA

T

exonic

De novo

nonframeshift deletion

NM_015532
NM_001285900

c.205_207del
c.1396_1398del

p.69_69del
p.466_466del

-

Fu2022 E

GCOM1

2-1480-003

chr15:
58155285-58155285

A

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

GCOM1

AU076704

chr15:
57937072-57937072

G

A

intronic

De novo

-

Yuen2017 G

GCOM1

1-0551-004

chr15:
58159801-58159801

G

A

intergenic

De novo

-

Yuen2017 G

GCOM1

AU056803

chr15:
58032639-58032639

A

C

intergenic

De novo

-

Yuen2017 G

GCOM1

13757.p1

Complex Event; expand row to view variants

De novo

nonframeshift deletion

NM_015532
NM_001285900
NM_015532
NM_001285900

c.205_207del
c.1396_1398del
c.206_208del
c.1397_1399del

p.69_69del
p.466_466del
p.69_70del
p.466_467del

-

Iossifov2014 E
Kosmicki2017 E
O’Roak2012b E
O’Roak2014 T
Satterstrom2020 E
Wilfert2021 G

GCOM1

2-0129-004

chr15:
58025734-58025734

T

C

intergenic

De novo

-

Yuen2017 G

GCOM1

AU000704

chr15:
58228655-58228657

ACC

AC

intergenic

De novo

-

Yuen2017 G

GCOM1

2-1605-003

chr15:
58149979-58149979

T

C

intergenic

De novo

-

Yuen2017 G

GCOM1

AU4336301

chr15:
58196490-58196501

CTCTGTCTGTCT

CTCTGTCT

intergenic

De novo

-

Yuen2017 G

GCOM1

SP0014818

chr15:
57999278-57999278

C

T

intronic

De novo

-

Fu2022 E

GCOM1

5-0040-003

chr15:
58178589-58178589

C

T

intergenic

De novo

-

Yuen2017 G

GCOM1

AU060403

chr15:
58208836-58208836

G

A

intergenic

De novo

-

Yuen2017 G

GCOM1

SMHC01707s000

chr15:
57917978-57917978

T

A

exonic

De novo

nonsynonymous SNV

NM_001018090
NM_001018091
NM_001018100
NM_001285900
NM_152451

c.T413A
c.T413A
c.T413A
c.T413A
c.T413A

p.V138D
p.V138D
p.V138D
p.V138D
p.V138D

16.0

-

Yuan2023 E

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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