Variant Results

or

Results for "ZNF827"

Variant Events: 39

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

ZNF827

1-0273-004

chr4:
146728247-146728247

T

TTAA

intronic

De novo

-

Trost2022 G

ZNF827

150474

chr4:
146682291-146682291

C

T

UTR3

De novo

-

8.135E-5

Fu2022 E
Satterstrom2020 E
Trost2022 G

ZNF827

1-1049-003

chr4:
146729283-146729283

A

C

intronic

De novo

-

Trost2022 G

ZNF827

1-0273-004

chr4:
146728241-146728245

GATGT

TTTAAACTTTATTAATAACTTAC

intronic

De novo

-

Trost2022 G

ZNF827

1-0018-003

chr4:
146728247-146728247

T

TTAA

intronic

De novo

-

Trost2022 G

ZNF827

1-0867-003

chr4:
146717390-146717390

T

C

intronic

De novo

-

Trost2022 G

ZNF827

1-0435-003

chr4:
146953588-146953588

A

T

intergenic

De novo

-

Yuen2017 G

ZNF827

1-0018-003

chr4:
146728241-146728245

GATGT

TTTAAACTTTATTAATAACTTAC

intronic

De novo

-

Trost2022 G

ZNF827

AU3857301

chr4:
146850134-146850134

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZNF827

REACH000145

chr4:
146703990-146703990

T

C

intronic

De novo

-

Trost2022 G

ZNF827

2-1337-003

chr4:
146699605-146699605

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZNF827

3-0702-000

chr4:
146708393-146708393

G

A

intronic

De novo

-

Trost2022 G

ZNF827

SP0151550

chr4:
146823925-146823925

G

A

exonic

De novo

synonymous SNV

NM_001306215
NM_178835

c.C486T
c.C486T

p.H162H
p.H162H

-

5.778E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

ZNF827

1-1044-003

chr4:
146860569-146860569

C

A

upstream

De novo

-

Trost2022 G

ZNF827

3-0034-000

chr4:
146798194-146798195

CT

C

intronic

De novo

-

Trost2022 G

ZNF827

2-1085-004

chr4:
146799858-146799860

AGA

CG

intronic

De novo

-

Trost2022 G

ZNF827

AU072004

chr4:
146762757-146762757

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZNF827

SP0076560

chr4:
146791500-146791500

T

A

exonic

De novo

synonymous SNV

NM_001306215
NM_178835

c.A1878T
c.A1878T

p.P626P
p.P626P

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ZNF827

7-0226-003

chr4:
146787748-146787748

T

C

intronic

De novo

-

Trost2022 G

ZNF827

1-1204-004

chr4:
146791059-146791059

T

C

intronic

De novo

-

Trost2022 G

ZNF827

AU3399302

chr4:
146774512-146774512

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZNF827

13298.p1

chr4:
147008400-147008400

G

A

intergenic

De novo

-

Turner2016 G

ZNF827

GEA402

chr4:
146823705-146823705

G

A

exonic

De novo

stopgain

NM_001306215
NM_178835

c.C706T
c.C706T

p.R236X
p.R236X

38.0

-

Fu2022 E

ZNF827

AU056204

chr4:
146788279-146788279

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZNF827

Codina-Sola2015:ASD_24

chr4:
146791440-146791440

A

T

exonic

Maternal

nonsynonymous SNV

NM_001306215
NM_178835

c.T1938A
c.T1938A

p.D646E
p.D646E

23.8

1.648E-5

Codina-Sola2015 E

ZNF827

AU3787303

chr4:
146849785-146849785

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZNF827

1-0353-003

chr4:
146705222-146705222

C

T

intronic

De novo

-

Yuen2017 G

ZNF827

AU3900301

chr4:
146977138-146977138

T

C

intergenic

De novo

-

Yuen2017 G

ZNF827

1-0531-003

chr4:
147026305-147026305

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ZNF827

AU059903

chr4:
146829973-146829973

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZNF827

AU2333302

chr4:
146793722-146793722

A

T

intronic

De novo

-

Yuen2017 G

ZNF827

7-0197-003

chr4:
146980200-146980200

C

T

intergenic

De novo

-

Yuen2017 G

ZNF827

133343

chr4:
146823899-146823899

C

T

exonic

nonsynonymous SNV

NM_001306215
NM_178835

c.G512A
c.G512A

p.R171K
p.R171K

28.9

-

Woodbury-Smith2022 E

ZNF827

AU045512

chr4:
146863892-146863892

A

T

intergenic

De novo

-

Yuen2017 G

ZNF827

MSSNG00043-004A

chr4:
146701686-146701686

T

C

intronic

De novo

-

Trost2022 G

ZNF827

1-0750-003

chr4:
146703990-146703990

T

C

intronic

De novo

-

Trost2022 G

ZNF827

74-0450

chr4:
146824346-146824346

G

A

exonic

Inherited

nonsynonymous SNV

NM_001306215
NM_178835

c.C65T
c.C65T

p.A22V
p.A22V

8.211

6.105E-5

Patowary2019 E

ZNF827

1-0019-004

chr4:
146798493-146798493

T

C

intronic

De novo

-

Yuen2017 G

ZNF827

13629.p1

chr4:
146729028-146729028

T

C

intronic

De novo

-

Wilfert2021 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
	More