Variant Results

or

Results for "SEMA3C"

Variant Events: 57

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

SEMA3C

1-0092-004

chr7:
80702691-80702691

G

A

intergenic

De novo

-

Yuen2017 G

SEMA3C

2-0144-004

chr7:
80927031-80927031

A

C

intergenic

De novo

-

Yuen2017 G

SEMA3C

7-0123-003

chr7:
80958496-80958496

A

G

intergenic

De novo

-

Yuen2017 G

SEMA3C

2-1355-004

chr7:
80708975-80708975

G

A

intergenic

De novo

-

Yuen2017 G

SEMA3C

10-1118-003

chr7:
80422828-80422828

A

G

intronic

De novo

-

Trost2022 G

SEMA3C

2-1251-003

chr7:
80617719-80617719

C

G

intergenic

De novo

-

Yuen2017 G

SEMA3C

1-0465-003A

chr7:
80423154-80423157

ACTA

CCCG

intronic

De novo

-

Trost2022 G

SEMA3C

1-0903-004

chr7:
80402884-80402884

A

C

intronic

De novo

-

Trost2022 G

SEMA3C

3-0531-000

chr7:
80406764-80406764

C

G

intronic

De novo

-

Trost2022 G

SEMA3C

2-1148-004

chr7:
80675170-80675170

G

GTCTGTT

intergenic

De novo

-

Yuen2017 G

SEMA3C

4-0062-003

chr7:
80377405-80377406

CT

TC

intronic

De novo

-

Trost2022 G

SEMA3C

3-0544-000

chr7:
80396427-80396427

C

T

intronic

De novo

-

Trost2022 G

SEMA3C

1-0483-004

chr7:
80510307-80510307

G

C

intronic

De novo

-

Trost2022 G

SEMA3C

1-0683-004

chr7:
80565134-80565134

A

AAAATAAAAAAAGATTAATTTTTG

intergenic

De novo

-

Yuen2017 G

SEMA3C

MT_40.3

chr7:
80534892-80534892

G

GT

intronic

De novo

-

Trost2022 G

SEMA3C

MSSNG00140-003

chr7:
80460287-80460287

G

T

intronic

De novo

-

Trost2022 G

SEMA3C

7-0249-003

chr7:
81065826-81065826

G

C

intergenic

De novo

-

Yuen2017 G

SEMA3C

3-0630-000

chr7:
80501303-80501303

C

T

intronic

De novo

-

Trost2022 G

SEMA3C

REACH000073

chr7:
80444915-80444915

G

A

intronic

De novo

-

Trost2022 G

SEMA3C

REACH000073

chr7:
80444917-80444917

T

A

intronic

De novo

-

Trost2022 G

SEMA3C

7-0100-003

chr7:
80423154-80423157

ACTA

CCCG

intronic

De novo

-

Trost2022 G

SEMA3C

7-0423-003

chr7:
80442118-80442118

T

G

intronic

De novo

-

Trost2022 G

SEMA3C

AU3809302

chr7:
80525415-80525415

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SEMA3C

2-1134-003

chr7:
81076902-81076902

T

C

intergenic

De novo

-

Yuen2017 G

SEMA3C

AU2458303

chr7:
81195846-81195846

A

T

intergenic

De novo

-

Yuen2017 G

SEMA3C

AU2139301

chr7:
80937894-80937894

T

G

intergenic

De novo

-

Yuen2017 G

SEMA3C

SP0012641

chr7:
80439914-80439914

G

A

intronic

De novo

-

Fu2022 E
Trost2022 G

SEMA3C

065-07-107756

chr7:
80430173-80430173

T

G

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

SEMA3C

13298.p1

chr7:
80584667-80584667

A

C

intergenic

De novo

-

Turner2016 G

SEMA3C

2-1567-004

chr7:
80584918-80584918

G

A

intergenic

De novo

-

Yuen2017 G

SEMA3C

A31

chr7:
80431347-80431347

T

C

intronic

De novo

-

Wu2018 G

SEMA3C

1-0214-003

chr7:
80862311-80862311

G

A

intergenic

De novo

-

Yuen2017 G

SEMA3C

2-1408-004

chr7:
80575190-80575190

G

A

intergenic

De novo

-

Yuen2017 G

SEMA3C

1-0497-003

chr7:
80384591-80384591

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SEMA3C

1-0354-006

chr7:
80675170-80675170

G

GTCTGTT

intergenic

De novo

-

Yuen2017 G

SEMA3C

1-0347-003

chr7:
80915679-80915679

A

T

intergenic

De novo

-

Yuen2017 G

SEMA3C

2-1436-003

chr7:
81157314-81157314

A

T

intergenic

De novo

-

Yuen2017 G

SEMA3C

1-0338-005

chr7:
80830255-80830255

C

T

intergenic

De novo

-

Yuen2017 G

SEMA3C

SP0030550

chr7:
80418693-80418693

T

C

exonic

nonsynonymous SNV

NM_006379

c.A1283G

p.K428R

7.026

-

Zhou2022 GE

SEMA3C

9190752

chr7:
80374698-80374698

T

C

intronic

De novo

-

Fu2022 E

SEMA3C

AU3649304

chr7:
80579457-80579457

G

A

intergenic

De novo

-

Yuen2017 G

SEMA3C

AU4093304

chr7:
81128305-81128305

G

C

intergenic

De novo

-

Yuen2017 G

SEMA3C

1-0874-003

chr7:
80736536-80736536

A

G

intergenic

De novo

-

Yuen2017 G

SEMA3C

2-0007-004

chr7:
80584735-80584735

T

C

intergenic

De novo

-

Yuen2017 G

SEMA3C

2-1242-003

chr7:
80710243-80710243

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SEMA3C

AU017704

chr7:
81065505-81065505

A

G

intergenic

De novo

-

Yuen2017 G

SEMA3C

AU017704

chr7:
81065523-81065523

T

C

intergenic

De novo

-

Yuen2017 G

SEMA3C

AU017704

chr7:
81065527-81065527

T

C

intergenic

De novo

-

Yuen2017 G

SEMA3C

1-0560-003

chr7:
80928940-80928940

A

T

intergenic

De novo

-

Yuen2017 G

SEMA3C

AU2975301

chr7:
80490714-80490714

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SEMA3C

5-0116-003

chr7:
80844126-80844126

C

T

intergenic

De novo

-

Yuen2017 G

SEMA3C

2-1252-003

chr7:
80385077-80385077

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SEMA3C

5-0065-003

chr7:
80691575-80691575

A

ACTG

intergenic

De novo

-

Yuen2017 G

SEMA3C

1-0806-003

chr7:
80677919-80677919

G

T

intergenic

De novo

-

Yuen2017 G

SEMA3C

AU2569301

chr7:
81012978-81012978

C

T

intergenic

De novo

-

Yuen2017 G

SEMA3C

NDAR_INVCN331JT9_wes1

chr7:
80418846-80418850

TAGAA

T

intronic

De novo

-

Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SEMA3C

2-1169-003

chr7:
80431458-80431458

G

C

intronic

De novo

-

Trost2022 G
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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