Variant Results

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Results for "SERTAD2"

Variant Events: 17

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

SERTAD2

14661.p1

chr2:
64863430-64863430

C

T

exonic

De novo

synonymous SNV

NM_014755

c.G576A

p.A192A

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

SERTAD2

AU3918302

chr2:
64913834-64913834

G

C

intergenic

De novo

-

-

Yuen2017 G

SERTAD2

1-0383-003

chr2:
64931992-64931995

CTTT

CT

intergenic

De novo

-

-

Yuen2017 G

SERTAD2

AU056604

chr2:
64868691-64868691

T

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SERTAD2

Lim2017:37323

chr2:
64863430-64863430

C

T

exonic

De novo

synonymous SNV

NM_014755

c.G576A

p.A192A

-

Lim2017 E

SERTAD2

1-0196-005

chr2:
64916925-64916925

T

C

intergenic

De novo

-

-

Yuen2017 G

SERTAD2

1-0508-003

chr2:
64949853-64949853

T

C

intergenic

De novo

-

-

Yuen2017 G

SERTAD2

37323

chr2:
64863430-64863430

C

T

exonic

De novo

synonymous SNV

NM_014755

c.G576A

p.A192A

-

Fu2022 E
Trost2022 G

SERTAD2

1-0384-003

chr2:
64972551-64972551

T

C

intergenic

De novo

-

-

Yuen2017 G

SERTAD2

AU4376301

chr2:
64857760-64857760

C

T

downstream

De novo

-

-

Trost2022 G
Yuen2017 G

SERTAD2

AU3918301

chr2:
65017691-65017691

T

G

intergenic

De novo

-

-

Yuen2017 G

SERTAD2

AU4444304

chr2:
65038762-65038762

G

A

intergenic

De novo

-

-

Yuen2017 G

SERTAD2

7-0410-003

chr2:
64859634-64859634

C

T

UTR3

De novo

-

-

Trost2022 G

SERTAD2

AU4093302

chr2:
64935569-64935569

G

A

intergenic

De novo

-

-

Yuen2017 G

SERTAD2

AU4234303

chr2:
64872955-64872955

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SERTAD2

AU002406

chr2:
65001244-65001244

C

T

intergenic

De novo

-

-

Yuen2017 G

SERTAD2

AU4315302

chr2:
64906228-64906236

AAAGATAAG

AAAG

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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