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Results for "KCNV1"

Variant Events: 50

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
KCNV1     2-0036-003chr8:
111173856-111173856
GAintergenicDe novo--Yuen2016 G
KCNV1     2-1169-003chr8:
111700561-111700561
GAintergenicDe novo--Yuen2017 G
KCNV1     5-0109-003chr8:
111433317-111433317
CGintergenicDe novo--Yuen2017 G
KCNV1     AU3911301chr8:
111228617-111228617
CAintergenicDe novo--Yuen2017 G
KCNV1     5-0077-004chr8:
111553451-111553451
CCATATAAGGintergenicDe novo--Yuen2017 G
KCNV1     1-0567-004chr8:
111299416-111299416
CTintergenicDe novo--Yuen2017 G
KCNV1     SP0091972chr8:
110980720-110980720
GAexonicDe novononsynonymous SNVNM_014379c.C1100Tp.A367V13.97-Fu2022 E
KCNV1     AU003403chr8:
111182079-111182079
AGintergenicDe novo--Yuen2017 G
KCNV1     2-0219-004chr8:
111558482-111558482
CTintergenicDe novo--Yuen2017 G
KCNV1     AU0780301chr8:
111152739-111152739
GAintergenicDe novo--Yuen2017 G
KCNV1     1-0564-003chr8:
111818385-111818401
TTTATTATTATTATTATTTTATTATTATTATintergenicDe novo--Yuen2017 G
KCNV1     2-0043-003chr8:
111664436-111664436
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
KCNV1     2-1277-003chr8:
111740264-111740264
AGintergenicDe novo--Yuen2017 G
KCNV1     1-0435-003chr8:
111682099-111682099
ACintergenicDe novo--Yuen2017 G
KCNV1     AU4024303chr8:
111029344-111029345
TGTintergenicDe novo--Yuen2017 G
KCNV1     7-0135-003chr8:
111334479-111334479
CTintergenicDe novo--Yuen2017 G
KCNV1     2-1409-003chr8:
111379180-111379180
ATintergenicDe novo--Yuen2016 G
Yuen2017 G
KCNV1     2-1322-004chr8:
111057341-111057341
TTGintergenicDe novo--Yuen2017 G
KCNV1     2-1237-003chr8:
111835876-111835876
GAintergenicDe novo--Yuen2017 G
KCNV1     AU4452302chr8:
111908602-111908602
GAintergenicDe novo--Yuen2017 G
KCNV1     14304.p1chr8:
111701704-111701704
CGintergenicDe novo--Werling2018 G
KCNV1     AU4429301chr8:
111681908-111681908
GCintergenicDe novo--Yuen2017 G
KCNV1     1-0323-004chr8:
111914402-111914402
GAintergenicDe novo--Yuen2017 G
KCNV1     2-1736-003chr8:
111826072-111826072
AGintergenicDe novo--Yuen2017 G
KCNV1     AU012804chr8:
111273602-111273602
GAintergenicDe novo--Yuen2017 G
KCNV1     2-1509-003chr8:
111744943-111744943
CGintergenicDe novo--Yuen2017 G
KCNV1     2-0016-003chr8:
111173856-111173856
GAintergenicDe novo--Yuen2017 G
KCNV1     1-0976-003chr8:
111118658-111118658
GAintergenicDe novo--Yuen2017 G
KCNV1     2-1094-005chr8:
111767675-111767675
CTintergenicDe novo--Yuen2017 G
KCNV1     2-1370-003chr8:
111150893-111150893
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
KCNV1     2-0102-003chr8:
111432236-111432236
GAintergenicDe novo--Yuen2017 G
KCNV1     Codina-Sola2015:ASD_14chr8:
110980428-110980430
GATGexonicDe novoframeshift deletionNM_014379c.1390_1391delp.I464fs--Codina-Sola2015 E
KCNV1     AU2793303chr8:
111416054-111416054
ATintergenicDe novo--Yuen2017 G
KCNV1     AU2137304chr8:
111331121-111331121
TGintergenicDe novo--Yuen2017 G
KCNV1     1-0763-003chr8:
111068375-111068375
CTintergenicDe novo--Yuen2017 G
KCNV1     1-0556-003chr8:
111135799-111135799
TCintergenicDe novo--Yuen2017 G
KCNV1     2-1184-003chr8:
111247351-111247354
ATTGAintergenicDe novo--Yuen2016 G
KCNV1     AU056003chr8:
111416914-111416914
AGintergenicDe novo--Yuen2017 G
KCNV1     1-0563-003chr8:
111556770-111556770
CTintergenicDe novo--Yuen2017 G
KCNV1     1-0874-003chr8:
111355144-111355144
AGintergenicDe novo--Yuen2017 G
KCNV1     2-1386-003chr8:
111584767-111584767
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
KCNV1     AU046703chr8:
111643258-111643258
CTintergenicDe novo--Yuen2017 G
KCNV1     1-0186-004chr8:
111395306-111395306
AGintergenicDe novo--Yuen2017 G
KCNV1     5-0129-003chr8:
111329544-111329544
GCintergenicDe novo--Yuen2017 G
KCNV1     AU2089301chr8:
111028166-111028166
CGintergenicDe novo--Yuen2017 G
KCNV1     AU000704chr8:
111135306-111135306
ATintergenicDe novo--Yuen2017 G
KCNV1     1-0806-003chr8:
111503195-111503195
CAintergenicDe novo--Yuen2017 G
KCNV1     1-0985-003chr8:
111202695-111202695
GAintergenicDe novo--Yuen2017 G
KCNV1     AU1635302chr8:
111106633-111106633
CAintergenicDe novo--Yuen2017 G
KCNV1     1-0041-003chr8:
111773635-111773635
TCintergenicDe novo--Yuen2016 G
Yuen2017 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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