Variant Results

or

Results for "ZNF326"

Variant Events: 37

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

ZNF326

1-0075-003

chr1:
90644186-90644186

A

T

intergenic

De novo

-

Yuen2017 G

ZNF326

2-1169-004

chr1:
90953838-90953838

A

G

intergenic

De novo

-

Yuen2017 G

ZNF326

AU2139305

chr1:
91160574-91160574

A

G

intergenic

De novo

-

Yuen2017 G

ZNF326

13964.p1

chr1:
90505067-90505067

C

T

intergenic

De novo

-

Turner2016 G

ZNF326

2-1360-003

chr1:
90483591-90483591

G

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ZNF326

2-1366-003

chr1:
90548974-90548974

A

G

intergenic

De novo

-

Yuen2017 G

ZNF326

2-1509-003

chr1:
90924740-90924740

T

C

intergenic

De novo

-

Yuen2017 G

ZNF326

1-0627-005

chr1:
90973465-90973465

C

A

intergenic

De novo

-

Yuen2017 G

ZNF326

AU4444304

chr1:
90751322-90751322

A

C

intergenic

De novo

-

Yuen2017 G

ZNF326

2-1437-004

chr1:
90870017-90870017

C

CACTATCT

intergenic

De novo

-

Yuen2017 G

ZNF326

SP0059432

chr1:
90460816-90460816

C

T

UTR5

De novo

-

Fu2022 E
Trost2022 G

ZNF326

1-0772-003

chr1:
91148884-91148884

G

A

intergenic

De novo

-

Yuen2017 G

ZNF326

1-0271-003

chr1:
91054534-91054534

C

T

intergenic

De novo

-

Yuen2017 G

ZNF326

7-0140-003

chr1:
91113355-91113355

T

A

intergenic

De novo

-

Yuen2017 G

ZNF326

AU3725302

chr1:
90839360-90839360

A

G

intergenic

De novo

-

Yuen2017 G

ZNF326

2016-24201

chr1:
90493021-90493022

GA

G

exonic

frameshift deletion

NM_182976

c.1511delA

p.D504fs

-

Callaghan2019 G

ZNF326

74-0075

chr1:
90767562-90767562

G

A

intergenic

De novo

-

Michaelson2012 G

ZNF326

7-0119-003

chr1:
90747862-90747862

G

A

intergenic

De novo

-

Yuen2017 G

ZNF326

AU058103

chr1:
90716048-90716048

T

C

intergenic

De novo

-

Yuen2017 G

ZNF326

AU2433302

chr1:
90776588-90776588

T

C

intergenic

De novo

-

Yuen2017 G

ZNF326

mAGRE1803

chr1:
90493243-90493243

C

T

exonic

Maternal

stopgain

NM_182976

c.C1732T

p.Q578X

33.0

-

Cirnigliaro2023 G

ZNF326

1-0272-003

chr1:
90603979-90603979

C

G

intergenic

De novo

-

Yuen2017 G

ZNF326

7-0249-003

chr1:
91077384-91077384

C

A

intergenic

De novo

-

Yuen2017 G

ZNF326

AU2075302

chr1:
90665997-90665997

G

C

intergenic

De novo

-

Yuen2017 G

ZNF326

REACH000249

chr1:
90460918-90460918

C

G

intronic

De novo

-

Trost2022 G

ZNF326

1-0009-004

chr1:
90635055-90635055

A

G

intergenic

De novo

-

Yuen2017 G

ZNF326

AU4452302

chr1:
90479760-90479760

A

AT

intronic

De novo

-

Trost2022 G

ZNF326

AU051504

chr1:
90487916-90487916

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZNF326

1-1238-003

chr1:
90474401-90474401

G

T

intronic

De novo

-

Trost2022 G

ZNF326

G01-GEA-42-HI

chr1:
90487829-90487833

AAGAG

A

exonic

De novo

frameshift deletion

NM_182976

c.1327_1330del

p.R443fs

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ZNF326

AU3839302

chr1:
90706812-90706812

G

A

intergenic

De novo

-

Yuen2017 G

ZNF326

iHART1803

chr1:
90493243-90493243

C

T

exonic

Maternal

stopgain

NM_182976

c.C1732T

p.Q578X

33.0

-

Ruzzo2019 G

ZNF326

2-0273-003

chr1:
90530770-90530770

G

A

intergenic

De novo

-

Yuen2017 G

ZNF326

5-0129-003

chr1:
91165095-91165095

T

C

intergenic

De novo

-

Yuen2017 G

ZNF326

AU007503

chr1:
90767562-90767562

G

A

intergenic

De novo

-

Yuen2017 G

ZNF326

1-0511-003

chr1:
90635642-90635642

G

C

intergenic

De novo

-

Yuen2017 G

ZNF326

2-1296-003

chr1:
90569221-90569221

C

G

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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