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Results for "CEP295"

Variant Events: 12

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
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
CEP295     SP0098898chr11:
93463116-93463117
AGAexonicDe novoframeshift deletionNM_033395c.7649delGp.R2550fs--Fu2022 E
CEP295     AU046703chr11:
93434532-93434544
AAAATAAATAAATAAAATAAATintronicDe novo--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
CEP295     2-1173-003chr11:
93439271-93439271
GAintronicDe novo--Yuen2017 G
CEP295     182-10-113327chr11:
93430910-93430910
AGexonicDe novosynonymous SNVNM_033395c.A2832Gp.L944L--Fu2022 E
Satterstrom2020 E
CEP295     G01_GEA529HIchr11:
93412759-93412759
TTAintronicDe novo--Fu2022 E
CEP295     200675414@1082034482chr11:
93458987-93458987
TCexonicDe novosynonymous SNVNM_033395c.T6489Cp.N2163N--Satterstrom2020 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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