Variant Results

or

Results for "CELSR1"

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

CELSR1

1-0820-003

chr22:
47018948-47018948

C

T

intergenic

De novo

-

Yuen2017 G

CELSR1

14023.p1

chr22:
46777752-46777752

C

T

exonic

Mosaic

nonsynonymous SNV

NM_014246

c.G7079A

p.R2360H

18.49

1.0E-4

Dou2017 E
Lim2017 E

CELSR1

7-0188-003

chr22:
46834763-46834763

T

C

intronic

De novo

-

Yuen2017 G

CELSR1

PN400179

Complex Event; expand row to view variants

Unknown

frameshift insertion

NM_014246
NM_014246

c.4517_4518insCGCAGGTGGGGCCTTC
c.4518_4519insCC

p.S1506fs
p.A1507fs

-

0.0029

Leblond2019 E
Leblond2019 E

CELSR1

151974

chr22:
46793629-46793629

A

G

exonic

De novo

synonymous SNV

NM_014246

c.T5643C

p.C1881C

-

Fu2022 E

CELSR1

7-0055-003

chr22:
46993286-46993286

A

T

intergenic

De novo

-

Yuen2017 G

CELSR1

PN400412

Complex Event; expand row to view variants

Unknown

frameshift insertion

NM_014246
NM_014246

c.4517_4518insCGCAGGTGGGGCCTTC
c.4518_4519insCC

p.S1506fs
p.A1507fs

-

0.0029

Leblond2019 E
Leblond2019 E

CELSR1

AU4465303

chr22:
46863979-46863979

T

G

intronic

De novo

-

Yuen2017 G

CELSR1

SP0152979

chr22:
46762916-46762916

C

T

exonic

De novo

nonsynonymous SNV

NM_014246

c.G8179A

p.A2727T

0.131

2.981E-5

Fu2022 E

CELSR1

PN400383

Complex Event; expand row to view variants

Unknown

frameshift insertion

NM_014246
NM_014246

c.4517_4518insCGCAGGTGGGGCCTTC
c.4518_4519insCC

p.S1506fs
p.A1507fs

-

0.0029

Leblond2019 E
Leblond2019 E

CELSR1

SP0146157

chr22:
46785243-46785243

C

T

exonic

De novo

nonsynonymous SNV

NM_014246

c.G6499A

p.E2167K

22.6

2.558E-5

Fu2022 E

CELSR1

PN400289

Complex Event; expand row to view variants

Unknown

frameshift insertion

NM_014246
NM_014246

c.4517_4518insCGCAGGTGGGGCCTTC
c.4518_4519insCC

p.S1506fs
p.A1507fs

-

0.0029

Leblond2019 E
Leblond2019 E

CELSR1

SP0038219

chr22:
46932999-46932999

C

T

exonic

De novo

synonymous SNV

NM_014246

c.G69A

p.A23A

-

Fu2022 E

CELSR1

SP0097258

chr22:
46785387-46785387

G

A

exonic

De novo

synonymous SNV

NM_014246

c.C6355T

p.L2119L

-

Fu2022 E

CELSR1

AU07004

chr22:
46795678-46795678

T

G

exonic

De novo

nonsynonymous SNV

NM_014246

c.A5348C

p.N1783T

9.032

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E

CELSR1

AU3727302

chr22:
47001325-47001325

C

T

intergenic

De novo

-

Yuen2017 G

CELSR1

SP0011398

chr22:
46794541-46794541

G

A

intronic

De novo

-

3.387E-5

Fu2022 E

CELSR1

1-0976-003

chr22:
46977012-46977012

C

G

intergenic

De novo

-

Yuen2017 G

CELSR1

PN400297

Complex Event; expand row to view variants

Unknown

frameshift insertion

NM_014246
NM_014246

c.4518_4519insCC
c.4517_4518insCGCAGGTGGGGCCTTC

p.A1507fs
p.S1506fs

-

0.0029

Leblond2019 E
Leblond2019 E

CELSR1

SP0047603

chr22:
46760666-46760666

G

A

intronic

De novo

-

3.562E-5

Fu2022 E

CELSR1

2-1178-003

chr22:
46939245-46939245

G

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CELSR1

AU3900301

chr22:
46776038-46776038

A

T

intronic

De novo

-

Yuen2017 G

CELSR1

PN400524

Complex Event; expand row to view variants

Unknown

frameshift insertion

NM_014246
NM_014246

c.4518_4519insCC
c.4517_4518insCGCAGGTGGGGCCTTC

p.A1507fs
p.S1506fs

-

0.0029

Leblond2019 E
Leblond2019 E

CELSR1

5-0073-003

chr22:
46794497-46794497

G

A

exonic

De novo

nonsynonymous SNV

NM_014246

c.C5450T

p.T1817M

7.793

5.0E-4

Yuen2017 G

CELSR1

AU058104

chr22:
46913256-46913256

C

G

intronic

De novo

-

Yuen2017 G

CELSR1

SJD_50

chr22:
46805736-46805736

G

C

exonic

Maternal

nonsynonymous SNV

NM_014246

c.C4975G

p.Q1659E

13.86

-

Toma2013 E

CELSR1

12449.p1

chr22:
46780686-46780686

T

A

intronic

De novo

-

Turner2016 G

CELSR1

11252.p1

chr22:
46981286-46981286

C

T

intergenic

De novo

-

Turner2016 G

CELSR1

80001101240

chr22:
46776858-46776858

G

A

intronic

De novo

-

Fu2022 E
Satterstrom2020 E

CELSR1

11414.p1

chr22:
46859744-46859744

C

G

exonic

De novo

nonsynonymous SNV

NM_014246

c.G4043C

p.R1348P

25.9

6.0E-4

Satterstrom2020 E

CELSR1

1-0965-003

chr22:
46794929-46794929

G

A

intronic

De novo

-

Yuen2017 G

CELSR1

2-0223-004

chr22:
46955022-46955022

T

G

intergenic

De novo

-

Yuen2017 G

CELSR1

PN400439

Complex Event; expand row to view variants

Unknown

frameshift insertion

NM_014246
NM_014246

c.4517_4518insCGCAGGTGGGGCCTTC
c.4518_4519insCC

p.S1506fs
p.A1507fs

-

0.0029

Leblond2019 E
Leblond2019 E

CELSR1

PN400507

Complex Event; expand row to view variants

Unknown

frameshift insertion

NM_014246
NM_014246

c.4517_4518insCGCAGGTGGGGCCTTC
c.4518_4519insCC

p.S1506fs
p.A1507fs

-

0.0029

Leblond2019 E
Leblond2019 E

CELSR1

PN400380

Complex Event; expand row to view variants

Unknown

frameshift insertion

NM_014246
NM_014246

c.4517_4518insCGCAGGTGGGGCCTTC
c.4518_4519insCC

p.S1506fs
p.A1507fs

-

0.0029

Leblond2019 E
Leblond2019 E

CELSR1

2-1434-003

chr22:
46805574-46805574

C

T

intronic

De novo

-

Yuen2016 G

CELSR1

2-1506-003

chr22:
46908868-46908868

T

C

intronic

De novo

-

Yuen2017 G

CELSR1

AU4212303

chr22:
46786973-46786973

C

T

intronic

De novo

-

Yuen2017 G

CELSR1

AU1860302

chr22:
46917221-46917221

T

G

intronic

De novo

-

Yuen2017 G

CELSR1

PN400375

Complex Event; expand row to view variants

Unknown

frameshift insertion

NM_014246
NM_014246

c.4517_4518insCGCAGGTGGGGCCTTC
c.4518_4519insCC

p.S1506fs
p.A1507fs

-

0.0029

Leblond2019 E
Leblond2019 E

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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