Variant Results

or

Results for "SEMA5A"

Variant Events: 40

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

SEMA5A

AU003406

chr5:
9218169-9218169

C

T

intronic

De novo

-

Yuen2017 G

SEMA5A

2-1429-003

chr5:
9361856-9361856

G

A

intronic

De novo

-

Yuen2017 G

SEMA5A

2-1521-003

chr5:
9070281-9070281

G

A

intronic

De novo

-

Yuen2017 G

SEMA5A

PN400590

chr5:
9202106-9202106

G

A

exonic

De novo

nonsynonymous SNV

NM_003966

c.C893T

p.P298L

33.0

-

Leblond2019 E

SEMA5A

2-1361-003

chr5:
9104224-9104224

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

SEMA5A

3-0391-000

chr5:
9463792-9463792

T

C

intronic

De novo

-

Yuen2017 G

SEMA5A

1-0112-003

chr5:
9438071-9438071

A

C

intronic

De novo

-

Yuen2017 G

SEMA5A

AU0638302

chr5:
9143786-9143786

G

A

intronic

De novo

-

Yuen2017 G

SEMA5A

2-1487-003

chr5:
9128310-9128310

G

A

intronic

De novo

-

Yuen2017 G

SEMA5A

AU2035301

chr5:
9498755-9498755

C

T

intronic

De novo

-

Yuen2017 G

SEMA5A

13698.p1

chr5:
9043132-9043132

G

GA

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

SEMA5A

14006.p1

chr5:
9050563-9050563

G

C

exonic

De novo

nonsynonymous SNV

NM_003966

c.C2852G

p.S951C

19.93

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E

SEMA5A

14011.p1

chr5:
9119084-9119095

GTGCTGGCAGCA

G

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E

SEMA5A

11556.p1

chr5:
9274183-9274183

C

T

intronic

De novo

-

Werling2018 G

SEMA5A

PN400359

chr5:
9190451-9190451

G

A

exonic

Unknown

nonsynonymous SNV

NM_003966

c.C1201T

p.R401C

25.9

1.0E-4

Leblond2019 E

SEMA5A

AU4452302

chr5:
9442876-9442876

A

G

intronic

De novo

-

Yuen2017 G

SEMA5A

AU0540301

chr5:
9229232-9229232

C

G

intronic

De novo

-

Yuen2017 G

SEMA5A

AU1542301

chr5:
9189318-9189318

G

A

intronic

De novo

-

Yuen2017 G

SEMA5A

D’Gama2015:1349

chr5:
9224846-9224846

G

A

exonic

Unknown

stopgain

NM_003966

c.C586T

p.R196X

28.6

8.25E-6

D’Gama2015 T

SEMA5A

6252

chr5:
9050563-9050563

G

C

exonic

De novo

nonsynonymous SNV

NM_003966

c.C2852G

p.S951C

19.93

-

Fu2022 E

SEMA5A

2-1735-003

chr5:
9084700-9084700

T

C

intronic

De novo

-

Yuen2017 G

SEMA5A

2-1380-003

chr5:
9454469-9454469

C

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

SEMA5A

AU4007301

chr5:
9131747-9131771

AAAAAAAAAAAAAAAAAAAAAAAAC

A

intronic

De novo

-

Yuen2017 G

SEMA5A

1-0559-003

chr5:
9165146-9165146

A

C

intronic

De novo

-

Yuen2017 G

SEMA5A

2-1567-004

chr5:
9324771-9324771

A

G

intronic

De novo

-

Yuen2017 G

SEMA5A

iHART1624

chr5:
9066729-9066729

A

T

exonic

De novo

stopgain

NM_003966

c.T2103A

p.C701X

45.0

-

Ruzzo2019 G

SEMA5A

5-0014-003

chr5:
9303946-9303946

T

C

intronic

De novo

-

Yuen2017 G

SEMA5A

AU1668302

chr5:
9212478-9212478

C

A

intronic

De novo

-

Yuen2017 G

SEMA5A

7-0168-003

chr5:
9172485-9172485

G

A

intronic

De novo

-

Yuen2017 G

SEMA5A

SP0093748

chr5:
9380083-9380083

G

A

UTR5

De novo

-

Fu2022 E

SEMA5A

1-0936-003

chr5:
9343548-9343548

A

G

intronic

De novo

-

Yuen2017 G

SEMA5A

SP0113741

chr5:
9154720-9154720

C

G

exonic

De novo

nonsynonymous SNV

NM_003966

c.G1361C

p.R454T

4.722

-

Fu2022 E

SEMA5A

1-0936-003

chr5:
9068377-9068382

GAGAAG

GAGAAGAAG

intronic

De novo

-

Yuen2017 G

SEMA5A

AU4122301

chr5:
9080321-9080321

T

C

intronic

De novo

-

Yuen2017 G

SEMA5A

AU0452304

chr5:
9324470-9324470

G

A

intronic

De novo

-

Yuen2017 G

SEMA5A

2-1280-003

chr5:
9044891-9044912

GATTATTATTATTATTATTATT

GATTATTATTATTATTATT

intronic

De novo

-

Yuen2017 G

SEMA5A

AU2035302

chr5:
9498755-9498755

C

T

intronic

De novo

-

Yuen2017 G

SEMA5A

PN400194

chr5:
9119120-9119120

G

A

exonic

Unknown

nonsynonymous SNV

NM_003966

c.C1915T

p.R639C

26.8

-

Leblond2019 E

SEMA5A

PN400128

chr5:
9119120-9119120

G

A

exonic

Unknown

nonsynonymous SNV

NM_003966

c.C1915T

p.R639C

26.8

-

Leblond2019 E

SEMA5A

AU015903

chr5:
9210689-9210689

T

C

intronic

De novo

-

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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