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Results for "ZNF717"

Variant Events: 64

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
ZNF717     AU1668302chr3:
76147409-76147409
CAintergenicDe novo--Yuen2017 G
ZNF717     7-0151-003chr3:
76029301-76029301
CTintergenicDe novo--Yuen2017 G
ZNF717     AU2248302chr3:
76262614-76262614
GAintergenicDe novo--Yuen2017 G
ZNF717     AU046706chr3:
76357960-76357960
GCintergenicDe novo--Yuen2017 G
ZNF717     AU2248302chr3:
76397895-76397895
AGintergenicDe novo--Yuen2017 G
ZNF717     AU075703chr3:
75862154-75862154
AGintergenicDe novo--Yuen2017 G
ZNF717     1-0452-003chr3:
76004958-76004958
CAintergenicDe novo--Yuen2016 G
ZNF717     Shi2013:1chr3:
75788152-75788152
TGCexonicInheritedframeshift substitutionNM_001128223
NM_001290208
NM_001290209
c.622_622delinsGC
c.622_622delinsGC
c.472_472delinsGC
N/A
N/A
N/A
--Shi2013 G
ZNF717     2-0306-004chr3:
76114440-76114440
GTintergenicDe novo--Yuen2017 G
ZNF717     AU060004chr3:
76235490-76235490
AGintergenicDe novo--Yuen2017 G
ZNF717     2-0012-004chr3:
76505951-76505951
GTintergenicDe novo--Yuen2017 G
ZNF717     2-1384-003chr3:
76809763-76809763
CGintergenicDe novo--Yuen2017 G
ZNF717     2-1322-004chr3:
76402614-76402614
TCintergenicDe novo--Yuen2017 G
ZNF717     1-0508-003chr3:
75809885-75809885
CTintronicDe novo--Yuen2017 G
ZNF717     1-0075-003chr3:
75968920-75968920
CTintergenicDe novo--Yuen2017 G
ZNF717     2-1276-003chr3:
75895412-75895412
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
ZNF717     AU1355301chr3:
75896158-75896158
CTintergenicDe novo--Yuen2017 G
ZNF717     2-1302-003chr3:
76181819-76181819
CTintergenicDe novo--Yuen2017 G
ZNF717     AU4069301chr3:
76006663-76006663
GAintergenicDe novo--Yuen2017 G
ZNF717     AU3646301chr3:
76813877-76813877
CTintergenicDe novo--Yuen2017 G
ZNF717     7-0100-003chr3:
76754066-76754066
AGintergenicDe novo--Yuen2017 G
ZNF717     5-0138-003chr3:
76548726-76548726
CTintergenicDe novo--Yuen2017 G
ZNF717     AU058103chr3:
76940790-76940790
TCintergenicDe novo--Yuen2017 G
ZNF717     2-0306-003chr3:
76114440-76114440
GTintergenicDe novo--Yuen2016 G
ZNF717     2-1279-003chr3:
76479036-76479036
CAintergenicDe novo--Yuen2016 G
Yuen2017 G
ZNF717     2-1696-003chr3:
75892270-75892270
GCintergenicDe novo--Yuen2017 G
ZNF717     2-0214-004chr3:
76014575-76014575
AGintergenicDe novo--Yuen2017 G
ZNF717     AU4263304chr3:
76592659-76592659
GCintergenicDe novo--Yuen2017 G
ZNF717     2-0272-004chr3:
76707524-76707524
CTintergenicDe novo--Yuen2017 G
ZNF717     Shi2013:2chr3:
75788152-75788152
TGCexonicInheritedframeshift substitutionNM_001128223
NM_001290208
NM_001290209
c.622_622delinsGC
c.622_622delinsGC
c.472_472delinsGC
N/A
N/A
N/A
--Shi2013 G
ZNF717     AU2951302chr3:
76630165-76630171
GTGGTTGGTGintergenicDe novo--Yuen2017 G
ZNF717     1-0175-004chr3:
76091779-76091779
AGintergenicDe novo--Yuen2017 G
ZNF717     2-1169-004chr3:
76499191-76499191
GTintergenicDe novo--Yuen2017 G
ZNF717     AU3716302chr3:
76697827-76697827
GAintergenicDe novo--Yuen2017 G
ZNF717     AU056804chr3:
76471235-76471239
CAGAGCAGintergenicDe novo--Yuen2017 G
ZNF717     5-0077-003chr3:
76014567-76014567
CAintergenicDe novo--Yuen2017 G
ZNF717     AU2951303chr3:
76630165-76630171
GTGGTTGGTGintergenicDe novo--Yuen2017 G
ZNF717     1-0669-003chr3:
76895509-76895514
TATGATTATintergenicDe novo--Yuen2017 G
ZNF717     1-0526-003chr3:
76825405-76825405
ATintergenicDe novo--Yuen2017 G
ZNF717     1-0826-004chr3:
76599896-76599902
GCCAAACGintergenicDe novo--Yuen2017 G
ZNF717     AU3861303chr3:
76649319-76649319
TCintergenicDe novo--Yuen2017 G
ZNF717     AU2458302chr3:
76385780-76385782
CTTCTintergenicDe novo--Yuen2017 G
ZNF717     2-0171-003chr3:
76628581-76628581
CTintergenicDe novo--Yuen2017 G
ZNF717     1-0274-004chr3:
76900923-76900925
CATCintergenicDe novo--Yuen2017 G
ZNF717     AU3605304chr3:
76755358-76755358
TGintergenicDe novo--Yuen2017 G
ZNF717     AU3368302chr3:
76296726-76296730
ATTTTATTTTTintergenicDe novo--Yuen2017 G
ZNF717     1-0253-004chr3:
76127804-76127804
CTintergenicDe novo--Yuen2017 G
ZNF717     AU4092302chr3:
76980424-76980424
AGintergenicDe novo--Yuen2017 G
ZNF717     2-1508-003chr3:
76025828-76025828
AGintergenicDe novo--Yuen2017 G
ZNF717     2-1169-003chr3:
76638418-76638418
AGintergenicDe novo--Yuen2017 G
ZNF717     AU0452304chr3:
75988030-75988030
GTintergenicDe novo--Yuen2017 G
ZNF717     AU1635302chr3:
76086088-76086088
CTintergenicDe novo--Yuen2017 G
ZNF717     1-0175-003chr3:
76091779-76091779
AGintergenicDe novo--Yuen2017 G
ZNF717     AU4219302chr3:
76434398-76434398
CTintergenicDe novo--Yuen2017 G
ZNF717     AU3885305chr3:
76212298-76212298
GTintergenicDe novo--Yuen2017 G
ZNF717     1-0965-003chr3:
76838812-76838812
GCintergenicDe novo--Yuen2017 G
ZNF717     5-0074-003chr3:
76082965-76082965
GAintergenicDe novo--Yuen2017 G
ZNF717     2-1148-004chr3:
76076647-76076647
AGintergenicDe novo--Yuen2017 G
ZNF717     AU043804chr3:
76042336-76042336
GAintergenicDe novo--Yuen2017 G
ZNF717     A6chr3:
77042112-77042112
GAintergenicDe novo--Wu2018 G
ZNF717     2-0264-004chr3:
76242832-76242832
GCintergenicDe novo--Yuen2017 G
ZNF717     AU4234302chr3:
76333341-76333341
GAintergenicDe novo--Yuen2017 G
ZNF717     2-1264-003chr3:
76521095-76521095
AGintergenicDe novo--Yuen2017 G
ZNF717     AU0540301chr3:
76649812-76649812
CTintergenicDe novo--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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