Variant Results

or

Results for "SLIT3"

Variant Events: 94

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

SLIT3

5-0140-003

chr5:
168807032-168807032

T

C

intergenic

De novo

-

Yuen2017 G

SLIT3

AU4033303

chr5:
168840538-168840538

G

A

intergenic

De novo

-

Yuen2017 G

SLIT3

PN400543

chr5:
168151427-168151427

G

A

exonic

Unknown

nonsynonymous SNV

NM_001271946
NM_003062

c.C2333T
c.C2333T

p.T778M
p.T778M

20.3

6.0E-4

Leblond2019 E

SLIT3

1-0049-004

chr5:
168526713-168526713

G

GGTCAT

intronic

De novo

-

Trost2022 G
Yuen2017 G

SLIT3

1-0763-004

chr5:
168650286-168650286

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SLIT3

AU075207

chr5:
168318986-168318986

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SLIT3

AU2139301

chr5:
168667031-168667031

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SLIT3

AU2156303

chr5:
168854107-168854107

T

A

intergenic

De novo

-

Yuen2017 G

SLIT3

PN400551

chr5:
168151427-168151427

G

A

exonic

Unknown

nonsynonymous SNV

NM_001271946
NM_003062

c.C2333T
c.C2333T

p.T778M
p.T778M

20.3

6.0E-4

Leblond2019 E

SLIT3

AU4079301

chr5:
168362074-168362074

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SLIT3

2-0122-004

chr5:
168148791-168148791

C

T

intronic

De novo

-

Yuen2017 G

SLIT3

1-0567-003

chr5:
168477232-168477236

CAGTT

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SLIT3

2-0144-003

chr5:
168697362-168697362

C

T

intronic

De novo

-

Yuen2017 G

SLIT3

5-0014-003

chr5:
168704104-168704104

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SLIT3

2-1272-003

chr5:
168175351-168175351

C

A

exonic

De novo

synonymous SNV

NM_001271946
NM_003062

c.G2226T
c.G2226T

p.G742G
p.G742G

-

Jiang2013 G
Yuen2016 G
Zhou2022 GE

SLIT3

1-0046-003

chr5:
168088732-168088732

C

T

downstream

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

SLIT3

11452.p1

chr5:
168678421-168678421

G

A

exonic

Mosaic

synonymous SNV

NM_001271946
NM_003062

c.C240T
c.C240T

p.D80D
p.D80D

-

Krupp2017 E

SLIT3

09C80136

chr5:
168112800-168112800

G

A

exonic

De novo

synonymous SNV

NM_001271946
NM_003062

c.C3468T
c.C3447T

p.F1156F
p.F1149F

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SLIT3

2-1391-003

chr5:
168182453-168182453

T

TC

intronic

De novo

-

Yuen2017 G

SLIT3

4-0022-003

chr5:
168214592-168214592

G

A

intronic

De novo

-

Trost2022 G

SLIT3

PN400544

chr5:
168151427-168151427

G

A

exonic

Unknown

nonsynonymous SNV

NM_001271946
NM_003062

c.C2333T
c.C2333T

p.T778M
p.T778M

20.3

6.0E-4

Leblond2019 E

SLIT3

AU2165301

chr5:
168261713-168261713

A

G

intronic

De novo

-

Trost2022 G

SLIT3

1-0330-003

chr5:
168098932-168098937

GAGATA

G

intronic

De novo

-

Yuen2017 G

SLIT3

REACH000520

chr5:
168158661-168158661

G

A

intronic

De novo

-

Trost2022 G

SLIT3

MT_63.3

chr5:
168196564-168196564

C

T

intronic

De novo

-

Trost2022 G

SLIT3

1-0187-004

chr5:
168111950-168111950

T

A

intronic

De novo

-

Trost2022 G

SLIT3

2-1266-003

chr5:
168565095-168565095

A

G

intronic

De novo

-

Yuen2017 G

SLIT3

PN400532

chr5:
168151427-168151427

G

A

exonic

Unknown

nonsynonymous SNV

NM_001271946
NM_003062

c.C2333T
c.C2333T

p.T778M
p.T778M

20.3

6.0E-4

Leblond2019 E

SLIT3

MSSNG00377-003

chr5:
168423573-168423573

G

C

intronic

De novo

-

Trost2022 G

SLIT3

MSSNG00028-004

chr5:
168430877-168430877

G

C

intronic

De novo

-

Trost2022 G

SLIT3

1-0262-003A

chr5:
168378344-168378344

A

G

intronic

De novo

-

Trost2022 G

SLIT3

AU3907301

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

SLIT3

7-0247-003

chr5:
168404027-168404027

T

G

intronic

De novo

-

Trost2022 G

SLIT3

MSSNG00349-003

chr5:
168294285-168294285

C

T

intronic

De novo

-

Trost2022 G

SLIT3

2-0070-004

chr5:
168543355-168543355

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SLIT3

1-1112-003

chr5:
168318682-168318682

C

G

intronic

De novo

-

Trost2022 G

SLIT3

10-1149-003

chr5:
168272168-168272168

C

T

intronic

De novo

-

Trost2022 G

SLIT3

111309

chr5:
168233455-168233455

C

T

exonic

nonsynonymous SNV

NM_001271946
NM_003062

c.G931A
c.G931A

p.E311K
p.E311K

35.0

-

Woodbury-Smith2022 E

SLIT3

J4K7A_01

chr5:
168290899-168290899

T

C

intronic

De novo

-

Trost2022 G

SLIT3

MSSNG00196-003

chr5:
168500081-168500081

C

T

intronic

De novo

-

Trost2022 G

SLIT3

ASDFI_1007

chr5:
168149917-168149917

A

G

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

SLIT3

SP0135502

chr5:
168098170-168098170

C

T

intronic

De novo

-

1.0E-4

Fu2022 E
Trost2022 G

SLIT3

MSSNG00077-005

chr5:
168519089-168519089

G

A

intronic

De novo

-

Trost2022 G

SLIT3

2-1823-004

chr5:
168475560-168475560

G

A

intronic

De novo

-

Trost2022 G

SLIT3

REACH000653

chr5:
168496260-168496260

C

T

intronic

De novo

-

Trost2022 G

SLIT3

2-1731-003

chr5:
168705674-168705679

TGAGAG

TGAG

intronic

De novo

-

Yuen2017 G

SLIT3

PN400533

chr5:
168151427-168151427

G

A

exonic

Unknown

nonsynonymous SNV

NM_001271946
NM_003062

c.C2333T
c.C2333T

p.T778M
p.T778M

20.3

6.0E-4

Leblond2019 E

SLIT3

REACH000555

chr5:
168631930-168631930

G

A

intronic

De novo

-

Trost2022 G

SLIT3

2-0103-003

chr5:
168632088-168632088

C

T

intronic

De novo

-

Trost2022 G

SLIT3

13539.p1

chr5:
168469728-168469728

C

T

intronic

De novo

-

Turner2016 G

SLIT3

3-0785-000

chr5:
168559204-168559204

G

A

intronic

De novo

-

Trost2022 G

SLIT3

2-0319-004

chr5:
168173847-168173847

T

C

intronic

De novo

-

Yuen2017 G

SLIT3

4-0049-003

chr5:
168626495-168626495

T

C

intronic

De novo

-

Trost2022 G

SLIT3

REACH000058

chr5:
168543505-168543505

A

G

intronic

De novo

-

Trost2022 G

SLIT3

2-1454-003

chr5:
168094115-168094118

GCCT

GCCTCCT

intronic

De novo

-

Yuen2017 G

SLIT3

MSSNG00370-003

chr5:
168548992-168548992

G

A

intronic

De novo

-

Trost2022 G

SLIT3

MT_161.3

chr5:
168535342-168535344

CTG

C

intronic

De novo

-

Trost2022 G

SLIT3

2-1376-003

chr5:
168420390-168420390

G

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

SLIT3

5-0101-003

chr5:
168535471-168535471

G

T

intronic

De novo

-

Trost2022 G

SLIT3

MSSNG00363-003

chr5:
168697774-168697774

T

G

intronic

De novo

-

Trost2022 G

SLIT3

2-1562-004

chr5:
168378030-168378030

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SLIT3

AU4013303

chr5:
168389504-168389504

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SLIT3

AU4435301

chr5:
168333580-168333580

G

A

intronic

De novo

-

Yuen2017 G

SLIT3

REACH000101

chr5:
168700517-168700517

G

C

intronic

De novo

-

Trost2022 G

SLIT3

2-0012-003

chr5:
168089203-168089203

G

A

UTR3

De novo

-

Trost2022 G
Yuen2017 G

SLIT3

2-1562-004

chr5:
168088296-168088296

A

C

downstream

De novo

-

Trost2022 G
Yuen2017 G

SLIT3

14315.p1

chr5:
168838250-168838250

C

T

intergenic

De novo

-

Wilfert2021 G

SLIT3

7-0143-004

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

SLIT3

Cukier2014:18074

chr5:
168180047-168180047

C

T

exonic

Unknown

nonsynonymous SNV

NM_001271946
NM_003062

c.G1886A
c.G1886A

p.S629N
p.S629N

16.11

0.007

Cukier2014 E

SLIT3

AM01ZF-04

chr5:
168682651-168682651

G

A

intronic

De novo

-

Trost2022 G

SLIT3

1-0329-004

chr5:
168990001-168990001

C

T

intergenic

De novo

-

Yuen2017 G

SLIT3

1-0092-003

chr5:
168636595-168636598

GCCA

ACAC

intronic

De novo

-

Trost2022 G

SLIT3

MSSNG00363-004

chr5:
168648051-168648051

G

A

intronic

De novo

-

Trost2022 G

SLIT3

4-0062-003

chr5:
168632236-168632237

TA

AT

intronic

De novo

-

Trost2022 G

SLIT3

2-1407-003

chr5:
168575008-168575008

G

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

SLIT3

MSSNG00395-003

chr5:
168636592-168636592

T

C

intronic

De novo

-

Trost2022 G

SLIT3

1-0433-003

chr5:
168395065-168395065

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SLIT3

2-1644-003

chr5:
168473996-168473996

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SLIT3

Cukier2014:17342

chr5:
168180047-168180047

C

T

exonic

Unknown

nonsynonymous SNV

NM_001271946
NM_003062

c.G1886A
c.G1886A

p.S629N
p.S629N

16.11

0.007

Cukier2014 E

SLIT3

SJD_63.3

chr5:
168702091-168702091

C

T

intronic

De novo

-

Trost2022 G

SLIT3

AU2427303

chr5:
168259896-168259896

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SLIT3

1-0104-004

chr5:
168475361-168475361

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SLIT3

AU3368302

chr5:
168735086-168735086

T

C

intergenic

De novo

-

Yuen2017 G

SLIT3

AU3605304

chr5:
168509795-168509795

G

A

intronic

De novo

-

Yuen2017 G

SLIT3

1-0520-003

chr5:
168235865-168235865

G

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

SLIT3

1-0755-003

chr5:
168208505-168208505

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SLIT3

1-0353-003

chr5:
168222990-168222990

G

C

intronic

De novo

-

Yuen2017 G

SLIT3

2-1086-004

chr5:
168404923-168404923

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SLIT3

838_17au

chr5:
168176756-168176756

C

T

intronic

De novo

-

Fu2022 E

SLIT3

SP0136463

chr5:
168114030-168114030

C

T

exonic

De novo

nonsynonymous SNV

NM_001271946
NM_003062

c.G3289A
c.G3268A

p.V1097M
p.V1090M

2.527

3.0E-4

Trost2022 G
Zhou2022 GE

SLIT3

AU3915301

chr5:
168662990-168662990

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SLIT3

1-0567-004

chr5:
168477232-168477236

CAGTT

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SLIT3

2-1272-003A

chr5:
168175351-168175351

C

A

exonic

synonymous SNV

NM_001271946
NM_003062

c.G2226T
c.G2226T

p.G742G
p.G742G

-

Zhou2022 GE

SLIT3

2-1223-003

chr5:
168779365-168779365

A

C

intergenic

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
	More