Variant Results

or

Results for "ZCCHC7"

Variant Events: 36

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

ZCCHC7

2-0297-003

chr9:
37352115-37352115

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZCCHC7

SP0022638

chr9:
37126883-37126883

A

T

exonic

De novo

nonsynonymous SNV

NM_001289119
NM_001289120
NM_001289121
NM_032226

c.A554T
c.A554T
c.A554T
c.A554T

p.D185V
p.D185V
p.D185V
p.D185V

17.26

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ZCCHC7

1-1197-003

chr9:
37120479-37120479

A

G

UTR5

De novo

-

Trost2022 G

ZCCHC7

1-0665-003

chr9:
37387298-37387298

C

CTTTTT

intergenic

De novo

-

Yuen2017 G

ZCCHC7

SP0119110

chr9:
37304361-37304361

A

C

intronic

De novo

-

8.468E-6

Fu2022 E

ZCCHC7

1-0665-003

chr9:
37178538-37178542

TAAAC

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZCCHC7

SP0081788

chr9:
37304361-37304361

A

C

intronic

De novo

-

8.468E-6

Fu2022 E

ZCCHC7

7-0141-003

chr9:
37349841-37349841

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZCCHC7

AU1668302

chr9:
37333379-37333379

C

G

intronic

De novo

-

Yuen2017 G

ZCCHC7

1-0731-003

chr9:
37226668-37226668

A

G

intronic

De novo

-

Trost2022 G

ZCCHC7

MSSNG00016-004

chr9:
37229874-37229874

A

G

intronic

De novo

-

Trost2022 G

ZCCHC7

MSSNG00062-003

chr9:
37188249-37188249

A

G

intronic

De novo

-

Trost2022 G

ZCCHC7

1-0628-004A

chr9:
37195918-37195918

G

A

intronic

De novo

-

Trost2022 G

ZCCHC7

MT_35.3

chr9:
37181273-37181273

T

G

intronic

De novo

-

Trost2022 G

ZCCHC7

4-0073-003

chr9:
37185244-37185246

AGG

TAC

intronic

De novo

-

Trost2022 G

ZCCHC7

7-0247-003

chr9:
37250533-37250533

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZCCHC7

7-0371-003

chr9:
37132258-37132258

T

C

intronic

De novo

-

Trost2022 G

ZCCHC7

7-0247-003

chr9:
37298843-37298843

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZCCHC7

3-0005-000

chr9:
37142496-37142499

TTTC

T

intronic

De novo

-

Trost2022 G

ZCCHC7

3-0787-000

chr9:
37349887-37349887

C

T

intronic

De novo

-

Trost2022 G

ZCCHC7

AU055603

chr9:
37293350-37293350

A

C

intronic

De novo

-

Trost2022 G

ZCCHC7

7-0198-003

chr9:
37336252-37336252

C

T

intronic

De novo

-

Trost2022 G

ZCCHC7

AU3874301

chr9:
37384358-37384358

C

T

intergenic

De novo

-

Yuen2017 G

ZCCHC7

AU055603

chr9:
37256433-37256433

A

C

intronic

De novo

-

Trost2022 G

ZCCHC7

1-0354-003

chr9:
37281446-37281448

TAA

CT

intronic

De novo

-

Trost2022 G

ZCCHC7

Wang2023:98

chr9:
37354809-37354809

C

CA

exonic

De novo

frameshift insertion

NM_001289119
NM_001289120
NM_001289121
NM_032226

c.1187dupA
c.1187dupA
c.1187dupA
c.1187dupA

p.Q396fs
p.Q396fs
p.Q396fs
p.Q396fs

-

Wang2023 E

ZCCHC7

1-0107-003

chr9:
37149531-37149531

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZCCHC7

7-0464-003

chr9:
37120627-37120627

A

C

UTR5

De novo

-

Trost2022 G
Zhou2022 GE

ZCCHC7

Codina-Sola2015:ASD_5

chr9:
37304308-37304308

C

T

exonic

Paternal

stopgain

NM_001289119
NM_001289120
NM_001289121
NM_032226

c.C778T
c.C778T
c.C778T
c.C778T

p.R260X
p.R260X
p.R260X
p.R260X

20.7

8.286E-6

Codina-Sola2015 E

ZCCHC7

mAGRE5763

chr9:
37304244-37304245

CA

C

exonic

Paternal

frameshift deletion

NM_001289119
NM_001289120
NM_001289121
NM_032226

c.715delA
c.715delA
c.715delA
c.715delA

p.K239fs
p.K239fs
p.K239fs
p.K239fs

-

Cirnigliaro2023 G

ZCCHC7

mAGRE5762

chr9:
37304244-37304245

CA

C

exonic

Paternal

frameshift deletion

NM_001289119
NM_001289120
NM_001289121
NM_032226

c.715delA
c.715delA
c.715delA
c.715delA

p.K239fs
p.K239fs
p.K239fs
p.K239fs

-

Cirnigliaro2023 G

ZCCHC7

2-1086-004

chr9:
37255715-37255715

T

TC

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZCCHC7

1-0339-003

chr9:
37193207-37193207

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZCCHC7

AU3903302

chr9:
37198701-37198701

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZCCHC7

AU3846303

chr9:
37399420-37399420

G

C

intergenic

De novo

-

Yuen2017 G

ZCCHC7

AU1223301

chr9:
37290926-37290926

T

A

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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