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Results for "CELSR3"

Variant Events: 18

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     PN400379chr3:
48682550-48682550		CTexonicUnknownnonsynonymous SNVNM_001407c.G7890Ap.M2630I31.00.0044Leblond2019 E
CELSR3     A23chr3:
48698203-48698203		GAexonicDe novononsynonymous SNVNM_001407c.C1865Tp.A622V22.0-Jiao2019 E
CELSR3     SP0115276chr3:
48683695-48683695		GAintronicDe novo--Fu2022 E
Trost2022 G
Zhou2022 GE
CELSR3     SP0056881chr3:
48692572-48692572		GAexonicDe novosynonymous SNVNM_001407c.C4893Tp.S1631S-4.95E-5Fu2022 E
Trost2022 G
Zhou2022 GE
CELSR3     11492.p1chr3:
48684327-48684327		GAexonicDe novosynonymous SNVNM_001407c.C7164Tp.T2388T--Iossifov2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE
CELSR3     11492_p1chr3:
48684327-48684327		GAexonicDe novosynonymous SNVNM_001407c.C7164Tp.T2388T--Fu2022 E
CELSR3     SP0047808chr3:
48697229-48697229		CAexonicDe novononsynonymous SNVNM_001407c.G2839Tp.V947L13.88.237E-6Trost2022 G
CELSR3     SP0244033chr3:
48682832-48682832		AGintronicDe novo--Trost2022 G
CELSR3     SP0004355chr3:
48680211-48680211		CTexonicDe novononsynonymous SNVNM_001407c.G8513Ap.R2838Q23.72.513E-5Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE
CELSR3     2-1801-003chr3:
48692022-48692022		GAintronicDe novo--Trost2022 G
CELSR3     7-0309-003chr3:
48698212-48698212		CTexonicDe novononsynonymous SNVNM_001407c.G1856Ap.R619H15.89-Trost2022 G
Zhou2022 GE
CELSR3     AU2340301chr3:
48683247-48683247		AGexonicsynonymous SNVNM_001407c.T7518Cp.N2506N--Zhou2022 GE
CELSR3     08C73613chr3:
48683247-48683247		AGexonicDe novosynonymous SNVNM_001407c.T7518Cp.N2506N--Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
CELSR3     Kim2020:A12chr3:
48683040-48683040		CTexonicDe novononsynonymous SNVNM_001407c.G7633Ap.V2545M16.642.556E-5Kim2020 E
CELSR3     iHART2787chr3:
48677687-48677687		GAexonicPaternalstopgainNM_001407c.C9331Tp.R3111X49.08.448E-6Ruzzo2019 G
CELSR3     12924.p1chr3:
48682259-48682259		GAexonicDe novononsynonymous SNVNM_001407c.C7975Tp.L2659F23.4-Ji2016 E
Krumm2015 E
Satterstrom2020 E
Zhou2022 GE
CELSR3     mAGRE2787chr3:
48677687-48677687		GAexonicPaternalstopgainNM_001407c.C9331Tp.R3111X49.08.448E-6Cirnigliaro2023 G
CELSR3     SSC06501chr3:
48682259-48682259		GAexonicDe novononsynonymous SNVNM_001407c.C7975Tp.L2659F23.4-Fu2022 E
Lim2017 E
Trost2022 G
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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