Variant Results

or

Results for "ZNF717"

Variant Events: 67

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

AU1668302

chr3:
76147409-76147409

C

A

intergenic

De novo

-

Yuen2017 G

ZNF717

7-0151-003

chr3:
76029301-76029301

C

T

intergenic

De novo

-

Yuen2017 G

ZNF717

AU2248302

chr3:
76262614-76262614

G

A

intergenic

De novo

-

Yuen2017 G

ZNF717

AU046706

chr3:
76357960-76357960

G

C

intergenic

De novo

-

Yuen2017 G

ZNF717

AU2248302

chr3:
76397895-76397895

A

G

intergenic

De novo

-

Yuen2017 G

ZNF717

AU075703

chr3:
75862154-75862154

A

G

intergenic

De novo

-

Yuen2017 G

ZNF717

1-0452-003

chr3:
76004958-76004958

C

A

intergenic

De novo

-

Yuen2016 G

ZNF717

Shi2013:1

chr3:
75788152-75788152

T

GC

exonic

Inherited

frameshift substitution

NM_001128223
NM_001290208
NM_001290209

c.622_622delinsGC
c.622_622delinsGC
c.472_472delinsGC

N/A
N/A
N/A

-

Shi2013 G

ZNF717

2-0306-004

chr3:
76114440-76114440

G

T

intergenic

De novo

-

Yuen2017 G

ZNF717

AU060004

chr3:
76235490-76235490

A

G

intergenic

De novo

-

Yuen2017 G

ZNF717

2-0012-004

chr3:
76505951-76505951

G

T

intergenic

De novo

-

Yuen2017 G

ZNF717

2-1384-003

chr3:
76809763-76809763

C

G

intergenic

De novo

-

Yuen2017 G

ZNF717

2-1322-004

chr3:
76402614-76402614

T

C

intergenic

De novo

-

Yuen2017 G

ZNF717

1-0508-003

chr3:
75809885-75809885

C

T

intronic

De novo

-

Yuen2017 G

ZNF717

3729_17au

chr3:
75790895-75790895

G

GATAGCAGGCTGTTATAAGTCTCCAGCATCACATCCCTGTACAGGGTCCTCTGAGCATTATCCAGGTCCTGCCACTCCTCCCAGGTGAAGTGCACAGCAACATCTTCAAAAGATATCAACCCCTGTAATGGCATATTTTTCCTC

intronic

De novo

-

Fu2022 E

ZNF717

1-0075-003

chr3:
75968920-75968920

C

T

intergenic

De novo

-

Yuen2017 G

ZNF717

2-1276-003

chr3:
75895412-75895412

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ZNF717

AU1355301

chr3:
75896158-75896158

C

T

intergenic

De novo

-

Yuen2017 G

ZNF717

2-1302-003

chr3:
76181819-76181819

C

T

intergenic

De novo

-

Yuen2017 G

ZNF717

AU4069301

chr3:
76006663-76006663

G

A

intergenic

De novo

-

Yuen2017 G

ZNF717

AU3646301

chr3:
76813877-76813877

C

T

intergenic

De novo

-

Yuen2017 G

ZNF717

7-0100-003

chr3:
76754066-76754066

A

G

intergenic

De novo

-

Yuen2017 G

ZNF717

5-0138-003

chr3:
76548726-76548726

C

T

intergenic

De novo

-

Yuen2017 G

ZNF717

AU058103

chr3:
76940790-76940790

T

C

intergenic

De novo

-

Yuen2017 G

ZNF717

2-0306-003

chr3:
76114440-76114440

G

T

intergenic

De novo

-

Yuen2016 G

ZNF717

2-1279-003

chr3:
76479036-76479036

C

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ZNF717

2-1696-003

chr3:
75892270-75892270

G

C

intergenic

De novo

-

Yuen2017 G

ZNF717

2-0214-004

chr3:
76014575-76014575

A

G

intergenic

De novo

-

Yuen2017 G

ZNF717

AU4263304

chr3:
76592659-76592659

G

C

intergenic

De novo

-

Yuen2017 G

ZNF717

2-0272-004

chr3:
76707524-76707524

C

T

intergenic

De novo

-

Yuen2017 G

ZNF717

SSC03607

chr3:
75788375-75788375

T

C

exonic

De novo

synonymous SNV

NM_001128223
NM_001290208
NM_001290209

c.A399G
c.A399G
c.A249G

p.T133T
p.T133T
p.T83T

-

Fu2022 E

ZNF717

Shi2013:2

chr3:
75788152-75788152

T

GC

exonic

Inherited

frameshift substitution

NM_001128223
NM_001290208
NM_001290209

c.622_622delinsGC
c.622_622delinsGC
c.472_472delinsGC

N/A
N/A
N/A

-

Shi2013 G

ZNF717

AU2951302

chr3:
76630165-76630171

GTGGTTG

GTG

intergenic

De novo

-

Yuen2017 G

ZNF717

1-0175-004

chr3:
76091779-76091779

A

G

intergenic

De novo

-

Yuen2017 G

ZNF717

2-1169-004

chr3:
76499191-76499191

G

T

intergenic

De novo

-

Yuen2017 G

ZNF717

AU3716302

chr3:
76697827-76697827

G

A

intergenic

De novo

-

Yuen2017 G

ZNF717

AU056804

chr3:
76471235-76471239

CAGAG

CAG

intergenic

De novo

-

Yuen2017 G

ZNF717

5-0077-003

chr3:
76014567-76014567

C

A

intergenic

De novo

-

Yuen2017 G

ZNF717

AU2951303

chr3:
76630165-76630171

GTGGTTG

GTG

intergenic

De novo

-

Yuen2017 G

ZNF717

1-0669-003

chr3:
76895509-76895514

TATGAT

TAT

intergenic

De novo

-

Yuen2017 G

ZNF717

1-0526-003

chr3:
76825405-76825405

A

T

intergenic

De novo

-

Yuen2017 G

ZNF717

1-0826-004

chr3:
76599896-76599902

GCCAAAC

G

intergenic

De novo

-

Yuen2017 G

ZNF717

AU3861303

chr3:
76649319-76649319

T

C

intergenic

De novo

-

Yuen2017 G

ZNF717

AU2458302

chr3:
76385780-76385782

CTT

CT

intergenic

De novo

-

Yuen2017 G

ZNF717

2-0171-003

chr3:
76628581-76628581

C

T

intergenic

De novo

-

Yuen2017 G

ZNF717

1-0274-004

chr3:
76900923-76900925

CAT

C

intergenic

De novo

-

Yuen2017 G

ZNF717

AU3605304

chr3:
76755358-76755358

T

G

intergenic

De novo

-

Yuen2017 G

ZNF717

AU3368302

chr3:
76296726-76296730

ATTTT

ATTTTT

intergenic

De novo

-

Yuen2017 G

ZNF717

1-0253-004

chr3:
76127804-76127804

C

T

intergenic

De novo

-

Yuen2017 G

ZNF717

AU4092302

chr3:
76980424-76980424

A

G

intergenic

De novo

-

Yuen2017 G

ZNF717

2-1508-003

chr3:
76025828-76025828

A

G

intergenic

De novo

-

Yuen2017 G

ZNF717

2-1169-003

chr3:
76638418-76638418

A

G

intergenic

De novo

-

Yuen2017 G

ZNF717

AU0452304

chr3:
75988030-75988030

G

T

intergenic

De novo

-

Yuen2017 G

ZNF717

AU1635302

chr3:
76086088-76086088

C

T

intergenic

De novo

-

Yuen2017 G

ZNF717

1-0175-003

chr3:
76091779-76091779

A

G

intergenic

De novo

-

Yuen2017 G

ZNF717

AU4219302

chr3:
76434398-76434398

C

T

intergenic

De novo

-

Yuen2017 G

ZNF717

AU3885305

chr3:
76212298-76212298

G

T

intergenic

De novo

-

Yuen2017 G

ZNF717

1-0965-003

chr3:
76838812-76838812

G

C

intergenic

De novo

-

Yuen2017 G

ZNF717

5-0074-003

chr3:
76082965-76082965

G

A

intergenic

De novo

-

Yuen2017 G

ZNF717

2-1148-004

chr3:
76076647-76076647

A

G

intergenic

De novo

-

Yuen2017 G

ZNF717

AU043804

chr3:
76042336-76042336

G

A

intergenic

De novo

-

Yuen2017 G

ZNF717

A6

chr3:
77042112-77042112

G

A

intergenic

De novo

-

Wu2018 G

ZNF717

2-0264-004

chr3:
76242832-76242832

G

C

intergenic

De novo

-

Yuen2017 G

ZNF717

AU4234302

chr3:
76333341-76333341

G

A

intergenic

De novo

-

Yuen2017 G

ZNF717

2-1264-003

chr3:
76521095-76521095

A

G

intergenic

De novo

-

Yuen2017 G

ZNF717

SP0040244

chr3:
76483929-76483929

C

T

intergenic

De novo

-

Fu2022 E

ZNF717

AU0540301

chr3:
76649812-76649812

C

T

intergenic

De novo

-

Yuen2017 G

Source Variant Information

, -

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	View
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