Variant Results

or

Results for "SEMA3A"

Variant Events: 33

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

SEMA3A

AU021204

chr7:
83837697-83837697

G

A

intergenic

De novo

-

Yuen2017 G

SEMA3A

AU4159302

chr7:
83869936-83869936

G

T

intergenic

De novo

-

Yuen2017 G

SEMA3A

5-5040-003

chr7:
83824894-83824900

GAAGAAA

G

upstream

De novo

-

Trost2022 G

SEMA3A

1-0556-003

chr7:
83890509-83890509

G

T

intergenic

De novo

-

Yuen2017 G

SEMA3A

2-1346-003

chr7:
83746107-83746107

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

SEMA3A

PN400281

chr7:
83764184-83764184

G

A

exonic

Unknown

nonsynonymous SNV

NM_006080

c.C196T

p.R66W

21.0

5.0E-4

Leblond2019 E

SEMA3A

2-1166-003

chr7:
84015171-84015171

T

C

intergenic

De novo

-

Yuen2017 G

SEMA3A

AU2787302

chr7:
83991257-83991257

T

G

intergenic

De novo

-

Yuen2017 G

SEMA3A

AU058104

chr7:
83688299-83688299

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SEMA3A

1-0044-003

chr7:
83884350-83884350

G

A

intergenic

De novo

-

Yuen2017 G

SEMA3A

AU071203

chr7:
83777210-83777210

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SEMA3A

AU4099301

chr7:
84030510-84030510

A

C

intergenic

De novo

-

Yuen2017 G

SEMA3A

AU3125301

chr7:
83800780-83800780

A

ATTTTTG

intronic

De novo

-

Trost2022 G
Yuen2017 G

SEMA3A

SP0066638

chr7:
83592490-83592490

A

T

intronic

De novo

-

Fu2022 E
Trost2022 G

SEMA3A

2-1626-003

chr7:
83754862-83754862

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SEMA3A

1-0296-003

chr7:
83612813-83612813

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SEMA3A

A3

chr7:
83937106-83937106

T

A

intergenic

De novo

-

Wu2018 G

SEMA3A

AU055603

chr7:
83662183-83662183

T

G

intronic

De novo

-

Trost2022 G

SEMA3A

11089.p1

chr7:
83760511-83760511

T

C

intronic

De novo

-

Turner2016 G

SEMA3A

AU055603

chr7:
83678917-83678917

A

C

intronic

De novo

-

Trost2022 G

SEMA3A

7-0342-004

chr7:
83649088-83649088

C

T

intronic

De novo

-

Trost2022 G

SEMA3A

MSSNG00220-003

chr7:
83661478-83661478

A

C

intronic

De novo

-

Trost2022 G

SEMA3A

2-1509-003

chr7:
83666640-83666660

TTTGTTGTTGTTGTTGTTGTT

TTTGTTGTTGTTGTTGTT

intronic

De novo

-

Yuen2017 G

SEMA3A

4-0062-003

chr7:
83606018-83606020

ATG

TAT

intronic

De novo

-

Trost2022 G

SEMA3A

7-0390-004

chr7:
83816408-83816408

G

A

intronic

De novo

-

Trost2022 G

SEMA3A

1-0806-003

chr7:
83824175-83824176

AG

A

UTR5

De novo

-

Trost2022 G

SEMA3A

MT_50.3

chr7:
83794595-83794595

G

A

intronic

De novo

-

Trost2022 G

SEMA3A

AU3125301

chr7:
83800782-83800782

A

C

intronic

De novo

-

Trost2022 G

SEMA3A

1-0518-003

chr7:
84103140-84103140

G

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SEMA3A

3-0193-000

chr7:
83716115-83716115

T

C

intronic

De novo

-

Trost2022 G

SEMA3A

MSSNG00407-003

chr7:
83753258-83753259

TA

T

intronic

De novo

-

Trost2022 G

SEMA3A

1-1131-003

chr7:
83680761-83680761

C

T

intronic

De novo

-

Trost2022 G

SEMA3A

7-0309-003

chr7:
83715737-83715737

A

G

intronic

De novo

-

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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