Variant Results

or

Results for "ZNF681"

Variant Events: 29

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

ZNF681

1-0049-004

chr19:
23935919-23935919

A

ATGTTG

intronic

De novo

-

Yuen2017 G

ZNF681

2-1341-004

chr19:
23927566-23927566

G

A

exonic

De novo

synonymous SNV

NM_138286

c.C786T

p.A262A

-

Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE

ZNF681

1-0265-003

chr19:
23935919-23935919

A

ATGTTG

intronic

De novo

-

Yuen2017 G

ZNF681

1-0401-003

chr19:
23935919-23935919

A

ATGTTG

intronic

De novo

-

Yuen2017 G

ZNF681

mAGRE4500

chr19:
23927334-23927335

AT

A

exonic

Maternal

frameshift deletion

NM_138286

c.1017delA

p.K339fs

-

9.084E-5

Cirnigliaro2023 G

ZNF681

mAGRE4108

chr19:
23927300-23927300

G

C

exonic

Paternal

stopgain

NM_138286

c.C1052G

p.S351X

14.08

-

Cirnigliaro2023 G

ZNF681

mAGRE4697

chr19:
23926722-23926722

T

TA

exonic

Paternal

stopgain

NM_138286

c.1629dupT

p.N544_H545delinsX

-

Cirnigliaro2023 G

ZNF681

mAGRE2912

chr19:
23926505-23926507

TTC

T

exonic

Paternal

frameshift deletion

NM_138286

c.1845_1846del

p.E615fs

-

Cirnigliaro2023 G

ZNF681

2-1391-003

chr19:
23935919-23935919

A

ATGTTG

intronic

De novo

-

Yuen2017 G

ZNF681

iHART2912

chr19:
23926505-23926507

TTC

T

exonic

Paternal

frameshift deletion

NM_138286

c.1845_1846del

p.E615fs

-

Ruzzo2019 G

ZNF681

mAGRE6176

chr19:
23928075-23928075

C

CT

exonic

Maternal

frameshift insertion

NM_138286

c.276dupA

p.D93fs

-

Cirnigliaro2023 G

ZNF681

mAGRE5850

chr19:
23927334-23927335

AT

A

exonic

Maternal

frameshift deletion

NM_138286

c.1017delA

p.K339fs

-

9.084E-5

Cirnigliaro2023 G

ZNF681

2-0132-004

chr19:
23935919-23935919

A

ATGTTG

intronic

De novo

-

Yuen2017 G

ZNF681

1-0656-003

chr19:
23933249-23933251

CTT

C

intronic

De novo

-

Yuen2017 G

ZNF681

2-1318-004

chr19:
23935908-23935912

ATCTT

GTGCC

intronic

De novo

-

Trost2022 G

ZNF681

2-1433-003

chr19:
23936618-23936621

TGTG

CGCA

intronic

De novo

-

Trost2022 G

ZNF681

14602.p1

chr19:
23927743-23927743

A

C

exonic

De novo

nonsynonymous SNV

NM_138286

c.T609G

p.C203W

13.01

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E

ZNF681

7-0365-004

chr19:
23924604-23924604

C

T

UTR3

De novo

-

Trost2022 G

ZNF681

1-0067-005

chr19:
23921105-23921108

GACA

G

downstream

De novo

-

Trost2022 G
Yuen2017 G

ZNF681

1-0299-004

chr19:
23935919-23935919

A

ATGTTG

intronic

De novo

-

Yuen2017 G

ZNF681

SP0099136

chr19:
23938360-23938360

A

C

intronic

De novo

-

Trost2022 G

ZNF681

MSSNG00013-004

chr19:
23941698-23941698

G

A

upstream

De novo

-

Trost2022 G

ZNF681

2-0088-003

chr19:
23936650-23936650

G

A

intronic

De novo

-

Trost2022 G

ZNF681

SP0018673

chr19:
23938360-23938360

A

C

intronic

De novo

-

Trost2022 G

ZNF681

2-0088-003

chr19:
23936641-23936642

AG

GC

intronic

De novo

-

Trost2022 G

ZNF681

7-0127-003

chr19:
23936966-23936971

GAACTT

G

intronic

De novo

-

Yuen2017 G

ZNF681

2-0088-003

chr19:
23936644-23936644

A

AC

intronic

De novo

-

Trost2022 G

ZNF681

1-0067-004

chr19:
23921105-23921108

GACA

G

downstream

De novo

-

Trost2022 G
Yuen2017 G

ZNF681

1-0252-003

chr19:
23935919-23935919

A

ATGTTG

intronic

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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