Variant Results

or

Results for "ROBO1"

Variant Events: 162

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

ROBO1

2-1269-003

chr3:
80242268-80242268

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ROBO1

A18

chr3:
79195594-79195594

T

C

intronic

De novo

-

Wu2018 G

ROBO1

2-1626-003

chr3:
78724926-78724926

C

T

intronic

De novo

-

Yuen2017 G

ROBO1

13171.p1

chr3:
79584224-79584224

T

C

intronic

De novo

-

Turner2016 G

ROBO1

AU0540301

chr3:
79149533-79149533

C

G

intronic

De novo

-

Yuen2017 G

ROBO1

AU3907302

chr3:
78727478-78727478

G

A

intronic

De novo

-

Yuen2017 G

ROBO1

12529.p1

chr3:
80859122-80859122

G

A

intergenic

De novo

-

Turner2016 G

ROBO1

13023.p1

chr3:
78993524-78993524

T

C

intronic

De novo

-

Turner2016 G

ROBO1

A13

chr3:
78990753-78990753

A

G

intronic

De novo

-

Wu2018 G

ROBO1

2-1322-004

chr3:
79102725-79102725

C

T

intronic

De novo

-

Yuen2017 G

ROBO1

AU4079301

chr3:
80352934-80352941

TTTTGTTT

TTTTGTTTGTTT

intergenic

De novo

-

Yuen2017 G

ROBO1

AU3912301

chr3:
79984266-79984273

GTTTTTTT

GTTTTTT

intergenic

De novo

-

Yuen2017 G

ROBO1

2-0210-005

chr3:
80116818-80116818

C

T

intergenic

De novo

-

Yuen2017 G

ROBO1

AU3263301

chr3:
80666814-80666814

A

G

intergenic

De novo

-

Yuen2017 G

ROBO1

PN400439

chr3:
78683723-78683724

CT

C

intronic

Unknown

-

2.0E-4

Leblond2019 E

ROBO1

1-0054-004

chr3:
80859061-80859061

A

G

intergenic

De novo

-

Yuen2017 G

ROBO1

AU2495302

chr3:
80153821-80153821

T

C

intergenic

De novo

-

Yuen2017 G

ROBO1

PN400306

chr3:
78683723-78683724

CT

C

intronic

Unknown

-

2.0E-4

Leblond2019 E

ROBO1

1-0571-003

chr3:
79851499-79851499

G

A

intergenic

De novo

-

Yuen2017 G

ROBO1

1-0388-003

chr3:
79439743-79439743

G

A

intronic

De novo

-

Yuen2017 G

ROBO1

1-0530-003

chr3:
79399043-79399043

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

ROBO1

1-0447-003

chr3:
80411061-80411067

CAAAAAA

CAAAAA

intergenic

De novo

-

Yuen2017 G

ROBO1

2-0110-003

chr3:
78650502-78650502

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

ROBO1

5-0110-003

chr3:
80068040-80068040

A

G

intergenic

De novo

-

Yuen2017 G

ROBO1

AU2793303

chr3:
80343611-80343611

A

T

intergenic

De novo

-

Yuen2017 G

ROBO1

CC1041_203

chr3:
78667085-78667085

C

G

exonic

De novo

nonsynonymous SNV

NM_001145845
NM_133631
NM_002941

c.G3682C
c.G3847C
c.G3982C

p.E1228Q
p.E1283Q
p.E1328Q

19.0

-

Fu2022 E

ROBO1

1-0080-003

chr3:
80037855-80037855

C

A

intergenic

De novo

-

Yuen2017 G

ROBO1

2-1455-003

chr3:
79711668-79711668

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

ROBO1

AU039305

chr3:
78866582-78866582

T

A

intronic

De novo

-

Yuen2017 G

ROBO1

2-0289-004

chr3:
80696671-80696679

AAAAGCATC

A

intergenic

De novo

-

Yuen2017 G

ROBO1

2-1212-003

chr3:
79683432-79683432

C

T

intronic

De novo

-

Yuen2017 G

ROBO1

1-0112-003

chr3:
79500311-79500316

AAAGTC

A

intronic

De novo

-

Yuen2017 G

ROBO1

PN400119

chr3:
78717701-78717702

AC

A

exonic

Unknown

frameshift deletion

NM_001145845
NM_133631
NM_002941

c.1454delG
c.1454delG
c.1562delG

p.G485fs
p.G485fs
p.G521fs

-

Leblond2019 E

ROBO1

SP0065631

chr3:
78655967-78655967

G

A

exonic

De novo

stopgain

NM_001145845
NM_133631
NM_002941

c.C4360T
c.C4525T
c.C4660T

p.Q1454X
p.Q1509X
p.Q1554X

44.0

-

Fu2022 E

ROBO1

2-1323-003

chr3:
79456521-79456521

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

ROBO1

AU4032306

chr3:
78683003-78683003

C

T

intronic

De novo

-

Yuen2017 G

ROBO1

AU4032306

chr3:
80036703-80036703

A

T

intergenic

De novo

-

Yuen2017 G

ROBO1

AU4231301

chr3:
79441600-79441605

GAAAAA

GAAAAAA

intronic

De novo

-

Yuen2017 G

ROBO1

2-1617-003

chr3:
80699914-80699914

C

T

intergenic

De novo

-

Yuen2017 G

ROBO1

1-0272-004

chr3:
80047470-80047470

A

T

intergenic

De novo

-

Yuen2017 G

ROBO1

AU2029302

chr3:
81038402-81038402

G

A

intergenic

De novo

-

Yuen2017 G

ROBO1

AU3053302

chr3:
80490861-80490861

C

T

intergenic

De novo

-

Yuen2017 G

ROBO1

SP0032556

chr3:
78717089-78717089

G

A

exonic

De novo

nonsynonymous SNV

NM_001145845
NM_133631
NM_002941

c.C1802T
c.C1802T
c.C1910T

p.A601V
p.A601V
p.A637V

9.533

-

Fu2022 E

ROBO1

1-0344-003

chr3:
80917694-80917694

G

A

intergenic

De novo

-

Yuen2017 G

ROBO1

2-1399-003

chr3:
80832742-80832747

CAAAAA

CAAAAAA

intergenic

De novo

-

Yuen2017 G

ROBO1

5-0116-003

chr3:
79292765-79292765

G

C

intronic

De novo

-

Yuen2017 G

ROBO1

AU4164301

chr3:
80823677-80823677

T

G

intergenic

De novo

-

Yuen2017 G

ROBO1

SP0055091

chr3:
78987970-78987970

G

A

exonic

De novo

nonsynonymous SNV

NM_001145845
NM_133631
NM_002941

c.C163T
c.C163T
c.C280T

p.R55C
p.R55C
p.R94C

20.2

8.281E-6

Fu2022 E

ROBO1

1-0344-003

chr3:
80359050-80359050

A

C

intergenic

De novo

-

Yuen2017 G

ROBO1

AU0636303

chr3:
80102699-80102699

T

C

intergenic

De novo

-

Yuen2017 G

ROBO1

2-1386-003

chr3:
80750170-80750170

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ROBO1

2-1380-003

chr3:
80422211-80422211

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ROBO1

AU3951301

chr3:
78726574-78726574

A

G

intronic

De novo

-

Yuen2017 G

ROBO1

AU3951301

chr3:
78837591-78837591

A

T

intronic

De novo

-

Yuen2017 G

ROBO1

AU3951301

chr3:
78930251-78930251

T

C

intronic

De novo

-

Yuen2017 G

ROBO1

AU057503

chr3:
80834573-80834573

C

A

intergenic

De novo

-

Yuen2017 G

ROBO1

AU066818

chr3:
80920737-80920737

C

T

intergenic

De novo

-

Yuen2017 G

ROBO1

AU030804

chr3:
78783864-78783864

A

C

intronic

De novo

-

Yuen2017 G

ROBO1

2-0296-004

chr3:
79577126-79577126

A

AGACCTTG

intronic

De novo

-

Yuen2017 G

ROBO1

AU072005

chr3:
79032926-79032926

T

G

intronic

De novo

-

Yuen2017 G

ROBO1

Lee2020:84

chr3:
78685067-78685067

G

A

exonic

stopgain

NM_001145845
NM_133631
NM_002941

c.C2929T
c.C3094T
c.C3229T

p.Q977X
p.Q1032X
p.Q1077X

43.0

-

Lee2020 T

ROBO1

1-0512-003

chr3:
79589646-79589646

C

T

intronic

De novo

-

Yuen2017 G

ROBO1

1-0651-003

chr3:
79917027-79917027

T

C

intergenic

De novo

-

Yuen2017 G

ROBO1

AU4462302

chr3:
80021209-80021209

T

C

intergenic

De novo

-

Yuen2017 G

ROBO1

1-0218-004

chr3:
80984825-80984825

G

C

intergenic

De novo

-

Yuen2017 G

ROBO1

1-0218-004

chr3:
80265384-80265384

G

A

intergenic

De novo

-

Yuen2017 G

ROBO1

iHART3065

chr3:
78763664-78763664

G

A

exonic

Maternal

stopgain

NM_001145845
NM_133631
NM_002941

c.C811T
c.C811T
c.C928T

p.R271X
p.R271X
p.R310X

41.0

-

Ruzzo2019 G

ROBO1

iHART1571

chr3:
78667135-78667135

T

G

exonic

De novo

nonsynonymous SNV

NM_001145845
NM_133631
NM_002941

c.A3632C
c.A3797C
c.A3932C

p.Y1211S
p.Y1266S
p.Y1311S

18.77

-

Ruzzo2019 G

ROBO1

PN400264

chr3:
78683723-78683724

CT

C

intronic

Unknown

-

2.0E-4

Leblond2019 E

ROBO1

2-1174-006

chr3:
79674388-79674388

C

T

intronic

De novo

-

Yuen2017 G

ROBO1

5-0014-004

chr3:
80813377-80813377

C

T

intergenic

De novo

-

Yuen2017 G

ROBO1

1-0469-005

chr3:
80846903-80846903

A

C

intergenic

De novo

-

Yuen2017 G

ROBO1

2-0036-003

chr3:
81011416-81011416

A

T

intergenic

De novo

-

Yuen2016 G

ROBO1

AU036203

chr3:
79324182-79324182

C

T

intronic

De novo

-

Yuen2017 G

ROBO1

AU3175303

chr3:
79227086-79227086

T

G

intronic

De novo

-

Yuen2017 G

ROBO1

AU054103

chr3:
80669826-80669826

G

A

intergenic

De novo

-

Yuen2017 G

ROBO1

1-0329-003

chr3:
80753527-80753527

A

T

intergenic

De novo

-

Yuen2017 G

ROBO1

AU3857301

chr3:
79198482-79198482

C

G

intronic

De novo

-

Yuen2017 G

ROBO1

1-0435-003

chr3:
80526176-80526176

T

C

intergenic

De novo

-

Yuen2017 G

ROBO1

3-0428-000

chr3:
79320381-79320381

T

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

ROBO1

AU3634301

chr3:
80892852-80892852

C

T

intergenic

De novo

-

Yuen2017 G

ROBO1

1-0068-003

chr3:
80509114-80509114

G

A

intergenic

De novo

-

Yuen2017 G

ROBO1

1-0863-003

chr3:
78654333-78654333

G

C

intronic

De novo

-

Yuen2017 G

ROBO1

2-1297-003

chr3:
79277015-79277022

GAGATACA

G

intronic

De novo

-

Yuen2017 G

ROBO1

AU1668302

chr3:
79874189-79874189

C

A

intergenic

De novo

-

Yuen2017 G

ROBO1

11504.p1

chr3:
80011281-80011283

CTT

C

intergenic

De novo

-

Wilfert2021 G

ROBO1

2-0145-004

chr3:
79992170-79992175

GTCTTT

G

intergenic

De novo

-

Yuen2017 G

ROBO1

AU3862305

chr3:
80132005-80132005

G

T

intergenic

De novo

-

Yuen2017 G

ROBO1

AU075703

chr3:
79389477-79389477

A

C

intronic

De novo

-

Yuen2017 G

ROBO1

A000426

chr3:
78708943-78708943

G

T

exonic

De novo

nonsynonymous SNV

NM_001145845
NM_133631
NM_002941

c.C2227A
c.C2227A
c.C2335A

p.P743T
p.P743T
p.P779T

28.0

-

Fu2022 E

ROBO1

2-0011-004

chr3:
80065370-80065370

C

T

intergenic

De novo

-

Yuen2017 G

ROBO1

1-0481-003

chr3:
79315802-79315802

A

G

intronic

De novo

-

Yuen2017 G

ROBO1

2-1362-004

chr3:
78945506-78945506

A

C

intronic

De novo

-

Yuen2017 G

ROBO1

7-0179-003

chr3:
80809132-80809132

C

A

intergenic

De novo

-

Yuen2017 G

ROBO1

PN400266

chr3:
78683723-78683724

CT

C

intronic

Unknown

-

2.0E-4

Leblond2019 E

ROBO1

AU4444304

chr3:
79327813-79327813

A

G

intronic

De novo

-

Yuen2017 G

ROBO1

AU2433302

chr3:
79166896-79166896

C

T

intronic

De novo

-

Yuen2017 G

ROBO1

AU3646301

chr3:
79222800-79222800

C

T

intronic

De novo

-

Yuen2017 G

ROBO1

1-0720-003

chr3:
79556232-79556233

AT

A

intronic

De novo

-

Yuen2017 G

ROBO1

2-0016-003

chr3:
81011416-81011416

A

T

intergenic

De novo

-

Yuen2017 G

ROBO1

AU009903

chr3:
80594898-80594898

A

G

intergenic

De novo

-

Yuen2017 G

ROBO1

2-1094-005

chr3:
79637200-79637200

A

G

intronic

De novo

-

Yuen2017 G

ROBO1

2-1360-003

chr3:
78825748-78825748

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

ROBO1

1-0112-004

chr3:
79500311-79500316

AAAGTC

A

intronic

De novo

-

Yuen2017 G

ROBO1

2-1341-004

chr3:
80983251-80983251

G

A

intergenic

De novo

-

Yuen2017 G

ROBO1

2-1398-003

chr3:
80344364-80344368

GATAC

G

intergenic

De novo

-

Yuen2017 G

ROBO1

7-0119-003

chr3:
79574561-79574561

C

T

intronic

De novo

-

Yuen2017 G

ROBO1

1-0923-003

chr3:
79959862-79959862

T

C

intergenic

De novo

-

Yuen2017 G

ROBO1

AU2109302

chr3:
79420402-79420402

G

T

intronic

De novo

-

Yuen2017 G

ROBO1

2-0503-004

chr3:
79484448-79484448

C

G

intronic

De novo

-

Yuen2017 G

ROBO1

AU1404302

chr3:
79547830-79547830

C

G

intronic

De novo

-

Yuen2017 G

ROBO1

AU2029303

chr3:
81038402-81038402

G

A

intergenic

De novo

-

Yuen2017 G

ROBO1

2-1269-003

Complex Event; expand row to view variants

De novo

-

Yuen2016 G
Yuen2017 G

ROBO1

2-1408-004

chr3:
79758787-79758787

T

C

intronic

De novo

-

Yuen2017 G

ROBO1

AU015903

chr3:
78671110-78671110

C

T

intronic

De novo

-

Yuen2017 G

ROBO1

AU3913303

chr3:
80016069-80016069

T

A

intergenic

De novo

-

Yuen2017 G

ROBO1

AU4012302

chr3:
79718538-79718538

T

C

intronic

De novo

-

Yuen2017 G

ROBO1

1-0347-003

chr3:
79788742-79788742

T

G

intronic

De novo

-

Yuen2017 G

ROBO1

AU015903

chr3:
80947314-80947314

C

T

intergenic

De novo

-

Yuen2017 G

ROBO1

2-1382-003

chr3:
79172491-79172491

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

ROBO1

2-1440-003

chr3:
79307097-79307097

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

ROBO1

A31

chr3:
79541264-79541264

C

T

intronic

De novo

-

Wu2018 G

ROBO1

1-0534-004

chr3:
81039875-81039875

T

G

intergenic

De novo

-

Yuen2017 G

ROBO1

AU1725306

chr3:
79403355-79403355

T

A

intronic

De novo

-

Yuen2017 G

ROBO1

AU3371305

chr3:
78719129-78719129

T

C

intronic

De novo

-

Yuen2017 G

ROBO1

AU3839303

chr3:
78919972-78919972

A

G

intronic

De novo

-

Yuen2017 G

ROBO1

AU4463303

chr3:
80796811-80796811

G

C

intergenic

De novo

-

Yuen2017 G

ROBO1

SMHC02031s000

chr3:
78735028-78735028

G

A

exonic

De novo

stopgain

NM_001145845
NM_133631
NM_002941

c.C1102T
c.C1102T
c.C1210T

p.R368X
p.R368X
p.R404X

37.0

-

Yuan2023 E

ROBO1

2-1605-004

chr3:
80003259-80003259

G

T

intergenic

De novo

-

Yuen2017 G

ROBO1

5-0077-003

chr3:
80762290-80762290

C

T

intergenic

De novo

-

Yuen2017 G

ROBO1

1-0393-003

chr3:
80426961-80426963

CAA

CA

intergenic

De novo

-

Yuen2017 G

ROBO1

1-0627-003

chr3:
80361858-80361858

C

T

intergenic

De novo

-

Yuen2017 G

ROBO1

AU3779304

chr3:
80152566-80152566

T

C

intergenic

De novo

-

Yuen2017 G

ROBO1

2-1579-003

chr3:
80821753-80821753

G

T

intergenic

De novo

-

Yuen2017 G

ROBO1

AU3506303

chr3:
80841133-80841133

G

A

intergenic

De novo

-

Yuen2017 G

ROBO1

AU066104

chr3:
79730378-79730378

C

A

intronic

De novo

-

Yuen2017 G

ROBO1

AU3951302

chr3:
79909954-79909954

C

T

intergenic

De novo

-

Yuen2017 G

ROBO1

1-0901-003

chr3:
80750817-80750817

T

C

intergenic

De novo

-

Yuen2017 G

ROBO1

2-1297-004

chr3:
79277015-79277022

GAGATACA

G

intronic

De novo

-

Yuen2017 G

ROBO1

1-0901-003

chr3:
79645088-79645088

C

A

intronic

De novo

-

Yuen2017 G

ROBO1

AU2072302

chr3:
80238971-80238971

T

C

intergenic

De novo

-

Yuen2017 G

ROBO1

1-0559-005

chr3:
80969108-80969108

A

T

intergenic

De novo

-

Yuen2017 G

ROBO1

2-1371-003

chr3:
80798712-80798728

TATAATAATAATAATAA

TATAATAATAATAA

intergenic

De novo

-

Yuen2017 G

ROBO1

1-0219-003

chr3:
80314996-80314996

G

C

intergenic

De novo

-

Yuen2017 G

ROBO1

2-1375-003

chr3:
79119862-79119862

C

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

ROBO1

2-1350-003

chr3:
79050953-79050953

C

A

intronic

De novo

-

Yuen2017 G

ROBO1

2-1174-005B

chr3:
79674388-79674388

C

T

intronic

De novo

-

Yuen2017 G

ROBO1

5-0123-003

chr3:
80516044-80516044

C

T

intergenic

De novo

-

Yuen2017 G

ROBO1

2-0289-003

chr3:
80696671-80696679

AAAAGCATC

A

intergenic

De novo

-

Yuen2017 G

ROBO1

AU2569301

chr3:
80256403-80256406

ATTT

ATT

intergenic

De novo

-

Yuen2017 G

ROBO1

5-0040-003

chr3:
79282312-79282312

G

A

intronic

De novo

-

Yuen2017 G

ROBO1

SSC06268

chr3:
78685134-78685134

A

G

exonic

De novo

synonymous SNV

NM_133631
NM_002941

c.T3027C
c.T3162C

p.N1009N
p.N1054N

-

Fu2022 E
Lim2017 E

ROBO1

1-0593-003

chr3:
78854194-78854194

G

A

intronic

De novo

-

Yuen2017 G

ROBO1

1-0965-003

chr3:
80042968-80042968

A

G

intergenic

De novo

-

Yuen2017 G

ROBO1

2-0319-003

chr3:
80520118-80520118

T

TCATCA

intergenic

De novo

-

Yuen2017 G

ROBO1

12976.p1

chr3:
78685134-78685134

A

G

exonic

De novo

synonymous SNV

NM_133631
NM_002941

c.T3027C
c.T3162C

p.N1009N
p.N1054N

-

Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E

ROBO1

2-1398-004

chr3:
80344364-80344368

GATAC

G

intergenic

De novo

-

Yuen2017 G

ROBO1

2-1526-003

chr3:
79445409-79445428

ATATTTGAGGTTTTTGATAG

A

intronic

De novo

-

Yuen2017 G

ROBO1

AU0780301

chr3:
79520307-79520307

G

A

intronic

De novo

-

Yuen2017 G

ROBO1

1-0387-003

Complex Event; expand row to view variants

De novo

-

Yuen2017 G
Yuen2017 G

ROBO1

2-0081-003

chr3:
79245324-79245324

A

G

intronic

De novo

-

Yuen2017 G

ROBO1

AU2029301

chr3:
80403880-80403880

C

T

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
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