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Results for "CELSR2"

Variant Events: 25

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     PN400489chr1:
109803697-109803697		GAexonicUnknownnonsynonymous SNVNM_001408c.G3992Ap.R1331H23.80.0012Leblond2019 E
CELSR2     SP0037839chr1:
109816265-109816265		CTexonicnonsynonymous SNVNM_001408c.C8717Tp.T2906M25.6-Zhou2022 GE
CELSR2     TAS_F0134Ychr1:
109812743-109812743		GAexonicDe novosynonymous SNVNM_001408c.G7296Ap.Q2432Q--Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
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     12289_p1chr1:
109801415-109801415		GAexonicDe novosynonymous SNVNM_001408c.G3672Ap.V1224V--Fu2022 E
CELSR2     TRE_2822chr1:
109793929-109793929		GAexonicDe novononsynonymous SNVNM_001408c.G1228Ap.E410K29.2-Fu2022 E
CELSR2     MSSNG00030-004chr1:
109806265-109806265		AGexonicDe novononsynonymous SNVNM_001408c.A4867Gp.S1623G3.382-Trost2022 G
CELSR2     13714_p1chr1:
109814032-109814032		CTexonicDe novosynonymous SNVNM_001408c.C7701Tp.A2567A--Fu2022 E
CELSR2     SP0142493chr1:
109792993-109792993		GAexonicDe novononsynonymous SNVNM_001408c.G292Ap.E98K16.921.662E-5Trost2022 G
CELSR2     AU3808305chr1:
109811517-109811517		GAexonicDe novononsynonymous SNVNM_001408c.G6518Ap.R2173H14.043.346E-5Yuen2017 G
Zhou2022 GE
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     3-0402-000chr1:
109817873-109817873		GAUTR3De novo--Trost2022 G
CELSR2     AUTPGX_1015chr1:
109812472-109812472		GAintronicDe novo-8.258E-5Trost2022 G
CELSR2     7-0097-003chr1:
109814706-109814706		GTintronicDe novo--Trost2022 G
Yuen2017 G
CELSR2     Al-Mubarak2017:ASD-69chr1:
109815496-109815496		GCexonicUnknownnonsynonymous SNVNM_001408c.G8185Cp.D2729H19.1-Al-Mubarak2017 E
CELSR2     PN400407chr1:
109803697-109803697		GAexonicUnknownnonsynonymous SNVNM_001408c.G3992Ap.R1331H23.80.0012Leblond2019 E
CELSR2     PN400301chr1:
109805030-109805030		CAexonicUnknownnonsynonymous SNVNM_001408c.C4508Ap.S1503Y27.05.0E-4Leblond2019 E
CELSR2     12289.p1chr1:
109801415-109801415		GAexonicDe novosynonymous SNVNM_001408c.G3672Ap.V1224V--Iossifov2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE
CELSR2     SP0111554chr1:
109805883-109805883		GAexonicDe novononsynonymous SNVNM_001408c.G4828Ap.A1610T14.743.572E-5Fu2022 E
Trost2022 G
Zhou2022 GE
CELSR2     13714.p1chr1:
109814032-109814032		CTexonicDe novosynonymous SNVNM_001408c.C7701Tp.A2567A--Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE
CELSR2     PN400213chr1:
109803697-109803697		GAexonicUnknownnonsynonymous SNVNM_001408c.G3992Ap.R1331H23.80.0012Leblond2019 E
CELSR2     SP0041645chr1:
109813168-109813168		GAexonicDe novononsynonymous SNVNM_001408c.G7429Ap.G2477S22.63.302E-5Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE
CELSR2     5-5021-003chr1:
109805784-109805784		GAexonicDe novononsynonymous SNVNM_001408c.G4729Ap.V1577M15.65-Trost2022 G
Zhou2022 GE
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
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