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Results for "KCNV1"
Variant Events: 51
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
2-0036-003
chr8:
111173856-111173856
G
A
intergenic
De novo
-
-
Yuen2016
G
KCNV1
2-1169-003
chr8:
111700561-111700561
G
A
intergenic
De novo
-
-
Yuen2017
G
KCNV1
5-0109-003
chr8:
111433317-111433317
C
G
intergenic
De novo
-
-
Yuen2017
G
KCNV1
AU3911301
chr8:
111228617-111228617
C
A
intergenic
De novo
-
-
Yuen2017
G
KCNV1
5-0077-004
chr8:
111553451-111553451
C
CATATAAGG
intergenic
De novo
-
-
Yuen2017
G
KCNV1
SMHC01288s000
chr8:
110980379-110980379
G
A
exonic
De novo
stopgain
NM_014379
c.C1441T
p.R481X
40.0
-
Yuan2023
E
KCNV1
1-0567-004
chr8:
111299416-111299416
C
T
intergenic
De novo
-
-
Yuen2017
G
KCNV1
SP0091972
chr8:
110980720-110980720
G
A
exonic
De novo
nonsynonymous SNV
NM_014379
c.C1100T
p.A367V
13.97
-
Fu2022
E
Trost2022
G
Zhou2022
G
E
KCNV1
AU003403
chr8:
111182079-111182079
A
G
intergenic
De novo
-
-
Yuen2017
G
KCNV1
2-0219-004
chr8:
111558482-111558482
C
T
intergenic
De novo
-
-
Yuen2017
G
KCNV1
AU0780301
chr8:
111152739-111152739
G
A
intergenic
De novo
-
-
Yuen2017
G
KCNV1
1-0564-003
chr8:
111818385-111818401
TTTATTATTATTATTAT
TTTATTATTATTAT
intergenic
De novo
-
-
Yuen2017
G
KCNV1
2-0043-003
chr8:
111664436-111664436
C
T
intergenic
De novo
-
-
Yuen2016
G
Yuen2017
G
KCNV1
2-1277-003
chr8:
111740264-111740264
A
G
intergenic
De novo
-
-
Yuen2017
G
KCNV1
1-0435-003
chr8:
111682099-111682099
A
C
intergenic
De novo
-
-
Yuen2017
G
KCNV1
AU4024303
chr8:
111029344-111029345
TG
T
intergenic
De novo
-
-
Yuen2017
G
KCNV1
7-0135-003
chr8:
111334479-111334479
C
T
intergenic
De novo
-
-
Yuen2017
G
KCNV1
2-1409-003
chr8:
111379180-111379180
A
T
intergenic
De novo
-
-
Yuen2016
G
Yuen2017
G
KCNV1
2-1322-004
chr8:
111057341-111057341
T
TG
intergenic
De novo
-
-
Yuen2017
G
KCNV1
2-1237-003
chr8:
111835876-111835876
G
A
intergenic
De novo
-
-
Yuen2017
G
KCNV1
AU4452302
chr8:
111908602-111908602
G
A
intergenic
De novo
-
-
Yuen2017
G
KCNV1
14304.p1
chr8:
111701704-111701704
C
G
intergenic
De novo
-
-
Werling2018
G
KCNV1
AU4429301
chr8:
111681908-111681908
G
C
intergenic
De novo
-
-
Yuen2017
G
KCNV1
1-0323-004
chr8:
111914402-111914402
G
A
intergenic
De novo
-
-
Yuen2017
G
KCNV1
2-1736-003
chr8:
111826072-111826072
A
G
intergenic
De novo
-
-
Yuen2017
G
KCNV1
AU012804
chr8:
111273602-111273602
G
A
intergenic
De novo
-
-
Yuen2017
G
KCNV1
2-1509-003
chr8:
111744943-111744943
C
G
intergenic
De novo
-
-
Yuen2017
G
KCNV1
2-0016-003
chr8:
111173856-111173856
G
A
intergenic
De novo
-
-
Yuen2017
G
KCNV1
1-0976-003
chr8:
111118658-111118658
G
A
intergenic
De novo
-
-
Yuen2017
G
KCNV1
2-1094-005
chr8:
111767675-111767675
C
T
intergenic
De novo
-
-
Yuen2017
G
KCNV1
2-1370-003
chr8:
111150893-111150893
C
T
intergenic
De novo
-
-
Yuen2016
G
Yuen2017
G
KCNV1
2-0102-003
chr8:
111432236-111432236
G
A
intergenic
De novo
-
-
Yuen2017
G
KCNV1
Codina-Sola2015:ASD_14
chr8:
110980428-110980430
GAT
G
exonic
De novo
frameshift deletion
NM_014379
c.1390_1391del
p.I464fs
-
-
Codina-Sola2015
E
KCNV1
AU2793303
chr8:
111416054-111416054
A
T
intergenic
De novo
-
-
Yuen2017
G
KCNV1
AU2137304
chr8:
111331121-111331121
T
G
intergenic
De novo
-
-
Yuen2017
G
KCNV1
1-0763-003
chr8:
111068375-111068375
C
T
intergenic
De novo
-
-
Yuen2017
G
KCNV1
1-0556-003
chr8:
111135799-111135799
T
C
intergenic
De novo
-
-
Yuen2017
G
KCNV1
2-1184-003
chr8:
111247351-111247354
ATTG
A
intergenic
De novo
-
-
Yuen2016
G
KCNV1
AU056003
chr8:
111416914-111416914
A
G
intergenic
De novo
-
-
Yuen2017
G
KCNV1
1-0563-003
chr8:
111556770-111556770
C
T
intergenic
De novo
-
-
Yuen2017
G
KCNV1
1-0874-003
chr8:
111355144-111355144
A
G
intergenic
De novo
-
-
Yuen2017
G
KCNV1
2-1386-003
chr8:
111584767-111584767
T
C
intergenic
De novo
-
-
Yuen2016
G
Yuen2017
G
KCNV1
AU046703
chr8:
111643258-111643258
C
T
intergenic
De novo
-
-
Yuen2017
G
KCNV1
1-0186-004
chr8:
111395306-111395306
A
G
intergenic
De novo
-
-
Yuen2017
G
KCNV1
5-0129-003
chr8:
111329544-111329544
G
C
intergenic
De novo
-
-
Yuen2017
G
KCNV1
AU2089301
chr8:
111028166-111028166
C
G
intergenic
De novo
-
-
Yuen2017
G
KCNV1
AU000704
chr8:
111135306-111135306
A
T
intergenic
De novo
-
-
Yuen2017
G
KCNV1
1-0806-003
chr8:
111503195-111503195
C
A
intergenic
De novo
-
-
Yuen2017
G
KCNV1
1-0985-003
chr8:
111202695-111202695
G
A
intergenic
De novo
-
-
Yuen2017
G
KCNV1
AU1635302
chr8:
111106633-111106633
C
A
intergenic
De novo
-
-
Yuen2017
G
KCNV1
1-0041-003
chr8:
111773635-111773635
T
C
intergenic
De 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 notes
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