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Results for "CELSR2"

Variant Events: 15

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
CELSR2     PN400407chr1:
109803697-109803697
GAexonicUnknownnonsynonymous SNVNM_001408c.G3992Ap.R1331H23.80.0012Leblond2019 E
CELSR2     PN400489chr1:
109803697-109803697
GAexonicUnknownnonsynonymous SNVNM_001408c.G3992Ap.R1331H23.80.0012Leblond2019 E
CELSR2     PN400301chr1:
109805030-109805030
CAexonicUnknownnonsynonymous SNVNM_001408c.C4508Ap.S1503Y27.05.0E-4Leblond2019 E
CELSR2     TAS_F0134Ychr1:
109812743-109812743
GAexonicDe novosynonymous SNVNM_001408c.G7296Ap.Q2432Q--Satterstrom2020 E
CELSR2     12289.p1chr1:
109801415-109801415
GAexonicDe novosynonymous SNVNM_001408c.G3672Ap.V1224V--Iossifov2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G
CELSR2     PN400209chr1:
109803697-109803697
GAexonicUnknownnonsynonymous SNVNM_001408c.G3992Ap.R1331H23.80.0012Leblond2019 E
CELSR2     PN400543chr1:
109805030-109805030
CAexonicUnknownnonsynonymous SNVNM_001408c.C4508Ap.S1503Y27.05.0E-4Leblond2019 E
CELSR2     13714.p1chr1:
109814032-109814032
CTexonicDe novosynonymous SNVNM_001408c.C7701Tp.A2567A--Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G
CELSR2     PN400213chr1:
109803697-109803697
GAexonicUnknownnonsynonymous SNVNM_001408c.G3992Ap.R1331H23.80.0012Leblond2019 E
CELSR2     AU3808305chr1:
109811517-109811517
GAexonicDe novononsynonymous SNVNM_001408c.G6518Ap.R2173H14.043.346E-5Yuen2017 G
CELSR2     PN400443chr1:
109803697-109803697
GAexonicUnknownnonsynonymous SNVNM_001408c.G3992Ap.R1331H23.80.0012Leblond2019 E
CELSR2     PN400125chr1:
109803697-109803697
GAexonicUnknownnonsynonymous SNVNM_001408c.G3992Ap.R1331H23.80.0012Leblond2019 E
CELSR2     SP0041645chr1:
109813168-109813168
GAexonicDe novononsynonymous SNVNM_001408c.G7429Ap.G2477S22.63.302E-5Feliciano2019 E
CELSR2     7-0097-003chr1:
109814706-109814706
GTintronicDe novo--Yuen2017 G
CELSR2     Al-Mubarak2017:ASD-69chr1:
109815496-109815496
GCexonicUnknownnonsynonymous SNVNM_001408c.G8185Cp.D2729H19.1-Al-Mubarak2017 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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