Variant Results

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or

Results for "CELSR3"

Variant Events: 12

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

CELSR3

PN400379

chr3:
48682550-48682550

C

T

exonic

Unknown

nonsynonymous SNV

NM_001407

c.G7890A

p.M2630I

31.0

Leblond2019 E

CELSR3

A23

chr3:
48698203-48698203

G

A

exonic

De novo

nonsynonymous SNV

NM_001407

c.C1865T

p.A622V

22.0

-

Jiao2019 E

CELSR3

SP0115276

chr3:
48683695-48683695

G

A

intronic

De novo

-

-

Fu2022 E

CELSR3

SP0056881

chr3:
48692572-48692572

G

A

exonic

De novo

synonymous SNV

NM_001407

c.C4893T

p.S1631S

-

Fu2022 E

CELSR3

11492.p1

chr3:
48684327-48684327

G

A

exonic

De novo

synonymous SNV

NM_001407

c.C7164T

p.T2388T

-

-

Iossifov2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G

CELSR3

11492_p1

chr3:
48684327-48684327

G

A

exonic

De novo

synonymous SNV

NM_001407

c.C7164T

p.T2388T

-

-

Fu2022 E

CELSR3

SP0004355

chr3:
48680211-48680211

C

T

exonic

De novo

nonsynonymous SNV

NM_001407

c.G8513A

p.R2838Q

23.7

Feliciano2019 E
Fu2022 E

CELSR3

08C73613

chr3:
48683247-48683247

A

G

exonic

De novo

synonymous SNV

NM_001407

c.T7518C

p.N2506N

-

-

Fu2022 E
Satterstrom2020 E

CELSR3

Kim2020:A12

chr3:
48683040-48683040

C

T

exonic

De novo

nonsynonymous SNV

NM_001407

c.G7633A

p.V2545M

16.64

Kim2020 E

CELSR3

iHART2787

chr3:
48677687-48677687

G

A

exonic

Paternal

stopgain

NM_001407

c.C9331T

p.R3111X

49.0

Ruzzo2019 G

CELSR3

12924.p1

chr3:
48682259-48682259

G

A

exonic

De novo

nonsynonymous SNV

NM_001407

c.C7975T

p.L2659F

23.4

-

Ji2016 E
Krumm2015 E
Satterstrom2020 E

CELSR3

SSC06501

chr3:
48682259-48682259

G

A

exonic

De novo

nonsynonymous SNV

NM_001407

c.C7975T

p.L2659F

23.4

-

Fu2022 E
Lim2017 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
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