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Results for "CELSR1"

Variant Events: 33

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     1-0820-003chr22:
47018948-47018948
CTintergenicDe novo--Yuen2017 G
CELSR1     14023.p1chr22:
46777752-46777752
CTexonicMosaicnonsynonymous SNVNM_014246c.G7079Ap.R2360H18.491.0E-4Dou2017 E
Lim2017 E
CELSR1     7-0188-003chr22:
46834763-46834763
TCintronicDe novo--Yuen2017 G
CELSR1     PN400179 Complex Event; expand row to view variants  Unknownframeshift insertionNM_014246
NM_014246
c.4517_4518insCGCAGGTGGGGCCTTC
c.4518_4519insCC
p.S1506fs
p.A1507fs
-0.0029Leblond2019 E
Leblond2019 E
CELSR1     7-0055-003chr22:
46993286-46993286
ATintergenicDe novo--Yuen2017 G
CELSR1     PN400412 Complex Event; expand row to view variants  Unknownframeshift insertionNM_014246
NM_014246
c.4517_4518insCGCAGGTGGGGCCTTC
c.4518_4519insCC
p.S1506fs
p.A1507fs
-0.0029Leblond2019 E
Leblond2019 E
CELSR1     AU4465303chr22:
46863979-46863979
TGintronicDe novo--Yuen2017 G
CELSR1     PN400383 Complex Event; expand row to view variants  Unknownframeshift insertionNM_014246
NM_014246
c.4517_4518insCGCAGGTGGGGCCTTC
c.4518_4519insCC
p.S1506fs
p.A1507fs
-0.0029Leblond2019 E
Leblond2019 E
CELSR1     PN400289 Complex Event; expand row to view variants  Unknownframeshift insertionNM_014246
NM_014246
c.4517_4518insCGCAGGTGGGGCCTTC
c.4518_4519insCC
p.S1506fs
p.A1507fs
-0.0029Leblond2019 E
Leblond2019 E
CELSR1     AU07004chr22:
46795678-46795678
TGexonicDe novononsynonymous SNVNM_014246c.A5348Cp.N1783T9.032-DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
CELSR1     AU3727302chr22:
47001325-47001325
CTintergenicDe novo--Yuen2017 G
CELSR1     1-0976-003chr22:
46977012-46977012
CGintergenicDe novo--Yuen2017 G
CELSR1     PN400297 Complex Event; expand row to view variants  Unknownframeshift insertionNM_014246
NM_014246
c.4518_4519insCC
c.4517_4518insCGCAGGTGGGGCCTTC
p.A1507fs
p.S1506fs
-0.0029Leblond2019 E
Leblond2019 E
CELSR1     2-1178-003chr22:
46939245-46939245
GCintergenicDe novo--Yuen2016 G
Yuen2017 G
CELSR1     AU3900301chr22:
46776038-46776038
ATintronicDe novo--Yuen2017 G
CELSR1     PN400524 Complex Event; expand row to view variants  Unknownframeshift insertionNM_014246
NM_014246
c.4518_4519insCC
c.4517_4518insCGCAGGTGGGGCCTTC
p.A1507fs
p.S1506fs
-0.0029Leblond2019 E
Leblond2019 E
CELSR1     5-0073-003chr22:
46794497-46794497
GAexonicDe novononsynonymous SNVNM_014246c.C5450Tp.T1817M7.7935.0E-4Yuen2017 G
CELSR1     AU058104chr22:
46913256-46913256
CGintronicDe novo--Yuen2017 G
CELSR1     SJD_50chr22:
46805736-46805736
GCexonicMaternalnonsynonymous SNVNM_014246c.C4975Gp.Q1659E13.86-Toma2013 E
CELSR1     12449.p1chr22:
46780686-46780686
TAintronicDe novo--Turner2016 G
CELSR1     11252.p1chr22:
46981286-46981286
CTintergenicDe novo--Turner2016 G
CELSR1     80001101240chr22:
46776858-46776858
GAintronicDe novo--Satterstrom2020 E
CELSR1     11414.p1chr22:
46859744-46859744
CGexonicDe novononsynonymous SNVNM_014246c.G4043Cp.R1348P25.96.0E-4Satterstrom2020 E
CELSR1     1-0965-003chr22:
46794929-46794929
GAintronicDe novo--Yuen2017 G
CELSR1     2-0223-004chr22:
46955022-46955022
TGintergenicDe novo--Yuen2017 G
CELSR1     PN400439 Complex Event; expand row to view variants  Unknownframeshift insertionNM_014246
NM_014246
c.4517_4518insCGCAGGTGGGGCCTTC
c.4518_4519insCC
p.S1506fs
p.A1507fs
-0.0029Leblond2019 E
Leblond2019 E
CELSR1     PN400507 Complex Event; expand row to view variants  Unknownframeshift insertionNM_014246
NM_014246
c.4517_4518insCGCAGGTGGGGCCTTC
c.4518_4519insCC
p.S1506fs
p.A1507fs
-0.0029Leblond2019 E
Leblond2019 E
CELSR1     PN400380 Complex Event; expand row to view variants  Unknownframeshift insertionNM_014246
NM_014246
c.4517_4518insCGCAGGTGGGGCCTTC
c.4518_4519insCC
p.S1506fs
p.A1507fs
-0.0029Leblond2019 E
Leblond2019 E
CELSR1     2-1434-003chr22:
46805574-46805574
CTintronicDe novo--Yuen2016 G
CELSR1     2-1506-003chr22:
46908868-46908868
TCintronicDe novo--Yuen2017 G
CELSR1     AU4212303chr22:
46786973-46786973
CTintronicDe novo--Yuen2017 G
CELSR1     AU1860302chr22:
46917221-46917221
TGintronicDe novo--Yuen2017 G
CELSR1     PN400375 Complex Event; expand row to view variants  Unknownframeshift insertionNM_014246
NM_014246
c.4517_4518insCGCAGGTGGGGCCTTC
c.4518_4519insCC
p.S1506fs
p.A1507fs
-0.0029Leblond2019 E
Leblond2019 E
Source Variant Information

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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 notesView
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