Variant Results

or

Results for "SV2C"

Variant Events: 56

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

SV2C

AU072905

chr5:
75528223-75528223

C

G

intronic

De novo

-

Yuen2017 G

SV2C

1-0282-003

chr5:
75390860-75390860

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SV2C

1-1103-003

chr5:
75403938-75403938

A

G

intronic

De novo

-

Trost2022 G

SV2C

AU1448303

chr5:
75417065-75417065

T

A

intronic

De novo

-

Trost2022 G

SV2C

AU025704

chr5:
75550965-75550965

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SV2C

MSSNG00380-003

chr5:
75403387-75403387

A

T

intronic

De novo

-

Trost2022 G

SV2C

SP0112122

chr5:
75427936-75427936

C

T

exonic

De novo

nonsynonymous SNV

NM_001297716
NM_014979

c.C361T
c.C361T

p.R121W
p.R121W

14.7

2.0E-4

Trost2022 G
Zhou2022 GE

SV2C

2-0309-003

chr5:
75596700-75596700

C

G

exonic

nonsynonymous SNV

NM_001297716
NM_014979

c.C1783G
c.C1783G

p.P595A
p.P595A

27.4

-

Zhou2022 GE

SV2C

2-1398-003

chr5:
75486847-75486851

GGACT

AATGGGA

intronic

De novo

-

Trost2022 G

SV2C

1-0567-003

chr5:
75573028-75573039

AAGCTAAACATG

A

intronic

De novo

-

Yuen2017 G

SV2C

1-1204-004

chr5:
75487063-75487063

C

G

intronic

De novo

-

Trost2022 G

SV2C

2-1339-003

chr5:
75486838-75486840

ACG

GCC

intronic

De novo

-

Trost2022 G

SV2C

2-1339-003

chr5:
75486846-75486851

CGGACT

ATGGGA

intronic

De novo

-

Trost2022 G

SV2C

SSC00010

chr5:
75469979-75469979

G

T

intronic

De novo

-

Trost2022 G

SV2C

AU2717301

chr5:
75482384-75482384

G

A

intronic

De novo

-

Trost2022 G

SV2C

1-0448-003

chr5:
75619222-75619222

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SV2C

MSSNG00066-004

chr5:
75419274-75419274

C

T

intronic

De novo

-

Trost2022 G

SV2C

5-5233-003

chr5:
75439221-75439221

A

G

intronic

De novo

-

Trost2022 G

SV2C

1-0885-003

chr5:
75487127-75487129

ATT

GTC

intronic

De novo

-

Trost2022 G

SV2C

2-1093-005

chr5:
75487127-75487129

ATT

GTC

intronic

De novo

-

Trost2022 G

SV2C

3-0431-000

chr5:
75679773-75679788

CATATATATATATATA

CATATATATATATA

intergenic

De novo

-

Yuen2017 G

SV2C

1-0265-003

chr5:
75487127-75487129

ATT

GTC

intronic

De novo

-

Trost2022 G

SV2C

2-1659-003

chr5:
75487127-75487129

ATT

GTC

intronic

De novo

-

Trost2022 G

SV2C

1-0104-004

chr5:
75487115-75487115

A

G

intronic

De novo

-

Trost2022 G

SV2C

2-1093-005

chr5:
75487115-75487115

A

G

intronic

De novo

-

Trost2022 G

SV2C

11078.p1

chr5:
75469979-75469979

G

T

intronic

De novo

-

Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

SV2C

1-0104-004

chr5:
75487105-75487107

GGG

AGC

intronic

De novo

-

Trost2022 G

SV2C

iHART1461

chr5:
75587603-75587604

CT

C

exonic

Paternal

frameshift deletion

NM_001297716
NM_014979

c.1260delT
c.1260delT

p.T420fs
p.T420fs

-

1.133E-5

Ruzzo2019 G

SV2C

3-0515-000

chr5:
75487115-75487115

A

G

intronic

De novo

-

Trost2022 G

SV2C

7-0222-003

chr5:
75555132-75555132

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SV2C

SP0023819

chr5:
75505513-75505513

T

G

intronic

De novo

-

Trost2022 G

SV2C

mAGRE4974

chr5:
75581628-75581628

G

A

exonic

Maternal

stopgain

NM_001297716
NM_014979

c.G1070A
c.G1070A

p.W357X
p.W357X

41.0

8.287E-6

Cirnigliaro2023 G

SV2C

SP0059482

chr5:
75505513-75505513

T

G

intronic

De novo

-

Trost2022 G

SV2C

5-0009-003

chr5:
75503229-75503229

T

C

intronic

De novo

-

Trost2022 G

SV2C

REACH000078

chr5:
75504886-75504886

G

A

intronic

De novo

-

Trost2022 G

SV2C

2-1093-005

chr5:
75487134-75487134

C

A

intronic

De novo

-

Trost2022 G

SV2C

1-0382-003

chr5:
75487153-75487153

C

T

intronic

De novo

-

Trost2022 G

SV2C

1-0265-003

chr5:
75487134-75487134

C

A

intronic

De novo

-

Trost2022 G

SV2C

1-0885-003

chr5:
75487134-75487134

C

A

intronic

De novo

-

Trost2022 G

SV2C

1-0271-004

chr5:
75619630-75619631

AT

CA

intronic

De novo

-

Trost2022 G

SV2C

1-1121-003

chr5:
75612880-75612880

A

G

intronic

De novo

-

Trost2022 G

SV2C

3-0161-000

chr5:
75615086-75615086

C

A

intronic

De novo

-

Trost2022 G

SV2C

MSSNG00125-003

chr5:
75527269-75527269

T

A

intronic

De novo

-

Trost2022 G

SV2C

mAGRE1461

chr5:
75587603-75587604

CT

C

exonic

Paternal

frameshift deletion

NM_001297716
NM_014979

c.1260delT
c.1260delT

p.T420fs
p.T420fs

-

1.133E-5

Cirnigliaro2023 G

SV2C

MSSNG00439-004

chr5:
75586124-75586124

A

G

intronic

De novo

-

Trost2022 G

SV2C

mAGRE4975

chr5:
75581628-75581628

G

A

exonic

Maternal

stopgain

NM_001297716
NM_014979

c.G1070A
c.G1070A

p.W357X
p.W357X

41.0

8.287E-6

Cirnigliaro2023 G

SV2C

3-0447-000

chr5:
75686260-75686260

T

C

intergenic

De novo

-

Yuen2017 G

SV2C

1-0304-003

chr5:
75399196-75399196

C

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

SV2C

1-0756-005

chr5:
75546836-75546836

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SV2C

A20

chr5:
75586841-75586841

C

G

intronic

De novo

-

Wu2018 G

SV2C

1-0595-004

chr5:
75658617-75658617

T

A

intergenic

De novo

-

Yuen2017 G

SV2C

AU4103301

chr5:
75537942-75537942

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SV2C

2-1215-003

chr5:
75551652-75551652

T

A

intronic

De novo

-

Yuen2017 G

SV2C

AU021204

chr5:
75690175-75690175

A

G

intergenic

De novo

-

Yuen2017 G

SV2C

AU021204

chr5:
75690170-75690170

C

T

intergenic

De novo

-

Yuen2017 G

SV2C

SP0052849

chr5:
75490735-75490735

G

A

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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