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Results for "CEP295"

Variant Events: 21

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
CEP295     SP0147634chr11:
93433179-93433179		GCexonicDe novononsynonymous SNVNM_033395c.G5101Cp.V1701L11.51-Fu2022 E
Trost2022 G
Zhou2022 GE
CEP295     200675414_1082034482chr11:
93458987-93458987		TCexonicDe novosynonymous SNVNM_033395c.T6489Cp.N2163N--Fu2022 E
CEP295     14069.p1 Complex Event; expand row to view variants  De novoframeshift insertionNM_033395c.7640dupAp.Q2547fs--Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE
CEP295     SP0098898chr11:
93463116-93463117		AGAexonicDe novoframeshift deletionNM_033395c.7649delGp.R2550fs--Fu2022 E
Trost2022 G
Zhou2022 GE
CEP295     AU046703 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
CEP295     iHART1268chr11:
93430311-93430311		TTCAexonicPaternalframeshift insertionNM_033395c.2233_2234insCAp.S745fs--Ruzzo2019 G
CEP295     Chen2017:29chr11:
93458987-93458987		TCexonicDe novosynonymous SNVNM_033395c.T6489Cp.N2163N--Chen2017 E
CEP295     UK10K_SKUSE5080211chr11:
93412615-93412615		GAexonicDe novononsynonymous SNVNM_033395c.G662Ap.R221Q22.34.585E-5DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
CEP295     mAGRE5983chr11:
93400812-93400812		GTexonicPaternalstopgainNM_033395c.G148Tp.E50X35.0-Cirnigliaro2023 G
CEP295     mAGRE5982chr11:
93400812-93400812		GTexonicPaternalstopgainNM_033395c.G148Tp.E50X35.0-Cirnigliaro2023 G
CEP295     2-1173-003chr11:
93439271-93439271		GAintronicDe novo--Trost2022 G
Yuen2017 G
CEP295     mAGRE5640chr11:
93462679-93462681		CAACexonicMaternalframeshift deletionNM_033395c.7383_7384delp.P2461fs--Cirnigliaro2023 G
CEP295     182-10-113327chr11:
93430910-93430910		AGexonicDe novosynonymous SNVNM_033395c.A2832Gp.L944L--Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
CEP295     mAGRE6078chr11:
93461947-93461952		TAGAAGTexonicPaternalframeshift deletionNM_033395c.7263_7267delp.L2421fs-9.254E-5Cirnigliaro2023 G
CEP295     G01_GEA529HIchr11:
93412759-93412759		TTAintronicDe novo--Fu2022 E
CEP295     70468chr11:
93463107-93463107		CCAexonicDe novoframeshift insertionNM_033395c.7640dupAp.Q2547fs--Trost2022 G
CEP295     mAGRE5631chr11:
93461947-93461952		TAGAAGTexonicPaternalframeshift deletionNM_033395c.7263_7267delp.L2421fs-9.254E-5Cirnigliaro2023 G
CEP295     mAGRE5630chr11:
93461947-93461952		TAGAAGTexonicPaternalframeshift deletionNM_033395c.7263_7267delp.L2421fs-9.254E-5Cirnigliaro2023 G
CEP295     mAGRE1334chr11:
93432636-93432636		CTexonicMaternalstopgainNM_033395c.C4558Tp.R1520X42.04.701E-5Cirnigliaro2023 G
CEP295     200675414@1082034482chr11:
93458987-93458987		TCexonicDe novosynonymous SNVNM_033395c.T6489Cp.N2163N--Satterstrom2020 E
Trost2022 G
Zhou2022 GE
CEP295     mAGRE1268chr11:
93430311-93430311		TTCAexonicPaternalframeshift insertionNM_033395c.2233_2234insCAp.S745fs--Cirnigliaro2023 G
Source Variant Information

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Source:

Paper alias:

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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.
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