Variant Results

or

Results for "SH3RF3"

Variant Events: 80

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

SH3RF3

7-0454-003

chr2:
109807831-109807831

G

C

intronic

De novo

-

Trost2022 G

SH3RF3

1-1215-003

chr2:
109826258-109826258

C

T

intronic

De novo

-

Trost2022 G

SH3RF3

2-0299-003

chr2:
109752338-109752338

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SH3RF3

1-0630-003

chr2:
109788881-109788881

C

T

intronic

De novo

-

Trost2022 G

SH3RF3

5-5237-005

chr2:
109797536-109797536

G

A

intronic

De novo

-

Trost2022 G

SH3RF3

2-1382-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

SH3RF3

7-0446-003

chr2:
109773484-109773484

A

G

intronic

De novo

-

Trost2022 G

SH3RF3

2-1362-004

chr2:
110259458-110259458

C

G

UTR3

De novo

-

Trost2022 G
Yuen2017 G

SH3RF3

SJD_10.3

chr2:
109886080-109886080

T

TA

intronic

De novo

-

Trost2022 G

SH3RF3

1-0202-003

chr2:
109888864-109888864

G

A

intronic

De novo

-

Trost2022 G

SH3RF3

MT_170.3

chr2:
109868139-109868139

C

A

intronic

De novo

-

Trost2022 G

SH3RF3

2-1384-003

chr2:
109762519-109762519

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SH3RF3

3-0295-000

chr2:
109876146-109876146

C

T

intronic

De novo

-

Trost2022 G

SH3RF3

3-0114-000

chr2:
109863571-109863571

C

T

intronic

De novo

-

Trost2022 G

SH3RF3

2-0144-003

chr2:
110100413-110100413

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SH3RF3

1-1174-003

chr2:
109867231-109867231

A

G

intronic

De novo

-

Trost2022 G

SH3RF3

REACH000101

chr2:
109847058-109847058

G

C

intronic

De novo

-

Trost2022 G

SH3RF3

1-0484-003

chr2:
109760223-109760223

C

CA

intronic

De novo

-

Yuen2017 G

SH3RF3

SP0020685

chr2:
110049097-110049098

TC

T

exonic

De novo

frameshift deletion

NM_001099289

c.1545delC

p.F515fs

-

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

SH3RF3

2-0088-003

chr2:
109848934-109848934

C

T

intronic

De novo

-

Trost2022 G

SH3RF3

1-0581-003

chr2:
110022858-110022858

A

T

intronic

De novo

-

Trost2022 G

SH3RF3

MSSNG00351-004

chr2:
110025011-110025011

G

A

intronic

De novo

-

Trost2022 G

SH3RF3

MT_35.3

chr2:
109983842-109983842

A

G

intronic

De novo

-

Trost2022 G

SH3RF3

AU4054302

chr2:
110063621-110063621

A

G

intronic

De novo

-

Yuen2017 G

SH3RF3

AU4344301

chr2:
110275551-110275551

G

A

intergenic

De novo

-

Yuen2017 G

SH3RF3

2-1801-003

chr2:
110006019-110006019

A

G

intronic

De novo

-

Trost2022 G

SH3RF3

2-1391-003

chr2:
110251347-110251347

C

CCATATACATTA

intronic

De novo

-

Yuen2017 G

SH3RF3

2-0244-003

chr2:
109960491-109960491

T

A

intronic

De novo

-

Trost2022 G

SH3RF3

SP0220974

chr2:
109964238-109964238

G

A

exonic

De novo

nonsynonymous SNV

NM_001099289

c.G682A

p.D228N

21.7

-

Trost2022 G

SH3RF3

1-0750-003

chr2:
109944118-109944118

C

A

intronic

De novo

-

Trost2022 G

SH3RF3

4-0062-003

chr2:
109951817-109951818

CT

TA

intronic

De novo

-

Trost2022 G

SH3RF3

MSSNG00401-003

chr2:
110073069-110073069

G

A

intronic

De novo

-

Trost2022 G

SH3RF3

1-0862-003

chr2:
109760223-109760223

C

CA

intronic

De novo

-

Yuen2017 G

SH3RF3

MSSNG00073-003

chr2:
110082077-110082077

G

C

intronic

De novo

-

Trost2022 G

SH3RF3

1-1011-003

chr2:
110063425-110063425

G

A

intronic

De novo

-

Trost2022 G

SH3RF3

1-0271-003

chr2:
109760223-109760223

C

CA

intronic

De novo

-

Yuen2017 G

SH3RF3

H3E8D_01

chr2:
110063620-110063620

A

G

intronic

De novo

-

Trost2022 G

SH3RF3

12759.p1

chr2:
110107166-110107166

G

A

exonic

Mosaic

nonsynonymous SNV

NM_001099289

c.G2254A

p.V752M

3.338

-

Dou2017 E

SH3RF3

3-0515-000

chr2:
110056769-110056769

C

T

intronic

De novo

-

Trost2022 G

SH3RF3

AU2729301

chr2:
110059862-110059862

C

T

intronic

De novo

-

Trost2022 G

SH3RF3

1004

chr2:
110035352-110035352

C

T

intronic

De novo

-

Trost2022 G

SH3RF3

3-0328-000

chr2:
110046569-110046569

C

G

intronic

De novo

-

Trost2022 G

SH3RF3

11484.p1

chr2:
109961258-109961258

A

G

intronic

Mosaic Pat., De novo

-

Dou2017 E
Iossifov2014 E
Kosmicki2017 E

SH3RF3

2-0139-004

chr2:
110256658-110256658

G

A

intronic

De novo

-

Trost2022 G

SH3RF3

2-1066-003

chr2:
110251411-110251411

C

ACACACCAT

intronic

De novo

-

Trost2022 G

SH3RF3

3-0659-000

chr2:
110254857-110254859

CAG

C

intronic

De novo

-

Trost2022 G

SH3RF3

2-1694-003

chr2:
110251374-110251374

A

AC

intronic

De novo

-

Trost2022 G

SH3RF3

2-1297-004

chr2:
110251393-110251393

T

CACACACCATAC

intronic

De novo

-

Trost2022 G

SH3RF3

1-0203-004

chr2:
109983304-109983304

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SH3RF3

1-1063-004

chr2:
110092827-110092827

G

C

intronic

De novo

-

Trost2022 G

SH3RF3

AU2100302

chr2:
109758174-109758174

A

C

intronic

De novo

-

Yuen2017 G

SH3RF3

2-1694-003

chr2:
110251370-110251370

A

ACAC

intronic

De novo

-

Trost2022 G

SH3RF3

2-1085-004

chr2:
110267074-110267074

G

A

intergenic

De novo

-

Yuen2017 G

SH3RF3

1-0547-003

chr2:
110272476-110272476

T

C

intergenic

De novo

-

Yuen2017 G

SH3RF3

1-0043-003

chr2:
109866270-109866270

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SH3RF3

5-0015-004

chr2:
110277983-110277995

CCCTGGCCAACAT

C

intergenic

De novo

-

Yuen2017 G

SH3RF3

12837.p1

chr2:
110259207-110259207

C

T

exonic

De novo

nonsynonymous SNV

NM_001099289

c.C2608T

p.R870C

18.17

1.0E-4

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE

SH3RF3

AU2129303

chr2:
109936643-109936643

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SH3RF3

AU3051303

chr2:
110094030-110094035

TGTAGT

TGT

intronic

De novo

-

Yuen2017 G

SH3RF3

5-0015-003

chr2:
110277983-110277995

CCCTGGCCAACAT

C

intergenic

De novo

-

Yuen2017 G

SH3RF3

2-0129-005

chr2:
109841733-109841733

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SH3RF3

5901026096961-C

chr2:
110036069-110036069

G

A

exonic

De novo

synonymous SNV

NM_001099289

c.G1374A

p.T458T

-

9.241E-5

Fu2022 E

SH3RF3

A15

chr2:
110036859-110036859

T

A

intronic

De novo

-

Wu2018 G

SH3RF3

SSC05861

chr2:
110259207-110259207

C

T

exonic

De novo

nonsynonymous SNV

NM_001099289

c.C2608T

p.R870C

18.17

1.0E-4

Fu2022 E
Trost2022 G

SH3RF3

2-0013-003

chr2:
110277983-110277995

CCCTGGCCAACAT

C

intergenic

De novo

-

Yuen2017 G

SH3RF3

2-1267-003

chr2:
110271115-110271115

T

G

intergenic

De novo

-

Yuen2017 G

SH3RF3

7-0097-003

chr2:
110028738-110028738

G

A

intronic

De novo

-

Yuen2017 G

SH3RF3

1-0158-003

chr2:
109760223-109760223

C

CA

intronic

De novo

-

Yuen2017 G

SH3RF3

1-0439-003

chr2:
109938219-109938219

T

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

SH3RF3

7-0024-003

chr2:
110021133-110021134

GC

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SH3RF3

1-0559-004

chr2:
110278749-110278749

T

G

intergenic

De novo

-

Yuen2017 G

SH3RF3

AU1404301

chr2:
109868230-109868237

CAAAAAAA

CAAAAAA

intronic

De novo

-

Yuen2017 G

SH3RF3

2-1277-003

chr2:
109760223-109760223

C

CA

intronic

De novo

-

Yuen2017 G

SH3RF3

2-1487-003

chr2:
110299108-110299108

C

T

intergenic

De novo

-

Yuen2017 G

SH3RF3

14091.p1

chr2:
110015021-110015021

C

T

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

SH3RF3

AU3124304

chr2:
110262040-110262040

G

A

UTR3

De novo

-

Trost2022 G
Yuen2017 G

SH3RF3

AU4093302

chr2:
110090886-110090886

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SH3RF3

2-1290-003

chr2:
110278370-110278370

T

C

intergenic

De novo

-

Yuen2017 G

SH3RF3

11341.p1

chr2:
109923523-109923523

T

C

intronic

De novo

-

Turner2016 G

SH3RF3

13946.p1

chr2:
109933278-109933278

C

G

intronic

De novo

-

Turner2016 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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