Variant Results

or

Results for "SV2B"

Variant Events: 30

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

SV2B

1-0295-003

chr15:
91917134-91917134

G

A

intergenic

De novo

-

Yuen2017 G

SV2B

MT_76

chr15:
91832784-91832784

T

G

exonic

Maternal

nonsynonymous SNV

NM_001167580
NM_014848

c.T1289G
c.T1742G

p.F430C
p.F581C

25.5

4.942E-5

Toma2013 E

SV2B

SP0184531

chr15:
91769936-91769936

G

A

exonic

De novo

nonsynonymous SNV

NM_014848

c.G443A

p.G148E

25.9

-

Trost2022 G

SV2B

5-5015-003

chr15:
91775941-91775941

C

T

intronic

De novo

-

Trost2022 G

SV2B

AU2310301

chr15:
91694958-91694958

C

T

intronic

De novo

-

Trost2022 G

SV2B

1-0274-004

chr15:
91822464-91822464

A

C

intronic

De novo

-

Yuen2017 G

SV2B

2-1430-003A

chr15:
91733209-91733209

C

G

intronic

De novo

-

Trost2022 G

SV2B

1-0120-003

chr15:
91730384-91730384

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SV2B

3-0497-000

chr15:
91684800-91684800

G

C

intronic

De novo

-

Trost2022 G

SV2B

MSSNG00414-003

chr15:
91686942-91686942

A

G

intronic

De novo

-

Trost2022 G

SV2B

AU3794302

chr15:
91838204-91838204

G

A

UTR3

De novo

-

Trost2022 G
Yuen2017 G

SV2B

2-1242-003

chr15:
91840139-91840139

C

T

UTR3

De novo

-

Trost2022 G

SV2B

4-0043-003

chr15:
91843580-91843580

T

C

UTR3

De novo

-

Trost2022 G

SV2B

3-0146-000

chr15:
91784639-91784639

C

A

intronic

De novo

-

Trost2022 G

SV2B

1-0700-003A

chr15:
91797923-91797923

A

T

intronic

De novo

-

Trost2022 G

SV2B

2-1426-003

chr15:
91664444-91664444

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SV2B

5-0077-003

chr15:
91730979-91730979

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SV2B

AU2215302

chr15:
91831453-91831453

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SV2B

mAGRE4936

chr15:
91769928-91769928

C

CA

exonic

Maternal

frameshift insertion

NM_014848

c.436dupA

p.S145fs

-

Cirnigliaro2023 G

SV2B

2-0057-004

chr15:
91671162-91671162

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SV2B

5-0077-004

chr15:
91730979-91730979

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SV2B

AU1698302

chr15:
91855568-91855568

G

A

intergenic

De novo

-

Yuen2017 G

SV2B

2-1222-003

chr15:
91732154-91732154

T

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

SV2B

AU2137304

chr15:
91959649-91959649

A

T

intergenic

De novo

-

Yuen2017 G

SV2B

11356.p1

chr15:
91825013-91825013

T

A

exonic

De novo

nonsynonymous SNV

NM_001167580
NM_014848

c.T976A
c.T1429A

p.C326S
p.C477S

27.3

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Sanders2012 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

SV2B

1-0274-003

chr15:
91822464-91822464

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SV2B

AU3997302

chr15:
91996862-91996862

T

C

intergenic

De novo

-

Yuen2017 G

SV2B

AU4306302

chr15:
91930028-91930028

T

A

intergenic

De novo

-

Yuen2017 G

SV2B

1-0384-003

chr15:
91918402-91918402

G

A

intergenic

De novo

-

Yuen2017 G

SV2B

SP0048900

chr15:
91827237-91827237

C

G

intronic

De novo

-

Fu2022 E
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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