Variant Results

or

Results for "ZNF644"

Variant Events: 32

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

ZNF644

7-0095-003

chr1:
91610615-91610615

C

T

intergenic

De novo

-

Yuen2017 G

ZNF644

13324.p1

chr1:
91415185-91415185

C

A

intronic

De novo

-

Turner2016 G

ZNF644

14642.p1

chr1:
91488139-91488139

T

C

upstream

De novo

-

Turner2016 G

ZNF644

2-1371-003

chr1:
91675433-91675433

C

T

intergenic

De novo

-

Yuen2016 G

ZNF644

AU3790301

chr1:
91550188-91550188

C

T

intergenic

De novo

-

Yuen2017 G

ZNF644

12641.p1

chr1:
91405302-91405302

C

T

exonic

De novo

nonsynonymous SNV

NM_201269

c.G1609A

p.E537K

13.87

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

ZNF644

1-0028-003

chr1:
91448235-91448235

A

T

intronic

De novo

-

Yuen2017 G

ZNF644

2-0045-003

chr1:
91642700-91642700

C

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ZNF644

PN400341

chr1:
91403431-91403431

C

T

exonic

Unknown

nonsynonymous SNV

NM_201269

c.G3299A

p.R1100H

17.57

0.003

Leblond2019 E

ZNF644

1-0636-003

chr1:
91639557-91639557

G

A

intergenic

De novo

-

Yuen2017 G

ZNF644

3-0471-000

chr1:
91424255-91424255

C

A

intronic

De novo

-

Trost2022 G

ZNF644

1-1134-004

chr1:
91383099-91383099

G

C

intronic

De novo

-

Trost2022 G

ZNF644

1-0362-003

chr1:
91458113-91458113

C

A

intronic

De novo

-

Trost2022 G

ZNF644

AU2216201

chr1:
91449174-91449174

C

A

intronic

De novo

-

Trost2022 G

ZNF644

AU4264302

chr1:
91554805-91554805

T

C

intergenic

De novo

-

Yuen2017 G

ZNF644

3-0193-000

chr1:
91478600-91478604

TTCTC

T

intronic

De novo

-

Trost2022 G

ZNF644

4-0062-003

chr1:
91474337-91474338

CG

C

intronic

De novo

-

Trost2022 G

ZNF644

3-0102-000

chr1:
91438377-91438377

T

C

intronic

De novo

-

Trost2022 G

ZNF644

5-5202-003

chr1:
91425611-91425611

T

C

intronic

De novo

-

Trost2022 G

ZNF644

SSC05077

chr1:
91447920-91447920

A

T

UTR5

De novo

-

Trost2022 G

ZNF644

3-0788-000

chr1:
91446955-91446955

G

C

intronic

De novo

-

Trost2022 G

ZNF644

AU4032306

chr1:
91467709-91467709

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZNF644

AU0638302

chr1:
91528937-91528937

C

T

intergenic

De novo

-

Yuen2017 G

ZNF644

AU3649304

chr1:
91474606-91474606

C

G

intronic

De novo

-

Yuen2017 G

ZNF644

12641_p1

chr1:
91405302-91405302

C

T

exonic

De novo

nonsynonymous SNV

NM_201269

c.G1609A

p.E537K

13.87

-

Fu2022 E

ZNF644

2-1561-003

chr1:
91418083-91418083

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZNF644

4-0073-003

chr1:
91487896-91487896

G

A

upstream

De novo

-

Trost2022 G

ZNF644

2-1345-003

chr1:
91484421-91484421

A

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ZNF644

AU4223302

chr1:
91388721-91388721

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZNF644

12534.p1

chr1:
91447920-91447920

A

T

UTR5

De novo

-

Krumm2015 E
Satterstrom2020 E

ZNF644

AU3634301

chr1:
91468643-91468643

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZNF644

PN400379

chr1:
91403431-91403431

C

T

exonic

Unknown

nonsynonymous SNV

NM_201269

c.G3299A

p.R1100H

17.57

0.003

Leblond2019 E

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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