Variant Results

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or

Results for "ZC4H2"

Variant Events: 15

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

ZC4H2

1-0099-003

chrX:
64337266-64337266

C

T

intergenic

De novo

-

-

Yuen2017 G

ZC4H2

AU3720302

chrX:
64493690-64493698

GAAAAAAAA

GAAAAAAAAA

intergenic

De novo

-

-

Yuen2017 G

ZC4H2

AU3846302

chrX:
64421953-64421955

TTA

TTATATA

intergenic

De novo

-

-

Yuen2017 G

ZC4H2

AU4308302

chrX:
64322964-64322964

C

G

intergenic

De novo

-

-

Yuen2017 G

ZC4H2

7-0192-003

chrX:
64341515-64341515

G

A

intergenic

De novo

-

-

Yuen2017 G

ZC4H2

1-0453-003

chrX:
64656063-64656063

C

G

intergenic

De novo

-

-

Yuen2017 G

ZC4H2

AU3866301

chrX:
64680491-64680491

G

C

intergenic

De novo

-

-

Yuen2017 G

ZC4H2

1-0452-003

chrX:
64288989-64288989

C

A

intergenic

De novo

-

-

Yuen2017 G

ZC4H2

7-0133-003

chrX:
64543984-64543984

A

C

intergenic

De novo

-

-

Yuen2017 G

ZC4H2

1-0804-003

chrX:
64250674-64250674

C

T

intronic

De novo

-

-

Yuen2017 G

ZC4H2

2-0142-003

chrX:
64159473-64159473

C

T

intronic

De novo

-

-

Yuen2017 G

ZC4H2

AU074403

chrX:
64380398-64380398

A

G

intergenic

De novo

-

-

Yuen2017 G

ZC4H2

Hu2022:73

chrX:
64137775-64137775

G

A

exonic

Maternal

nonsynonymous SNV

NM_001178033
NM_001178032
NM_001243804
NM_018684

c.C400T
c.C494T
c.C494T
c.C563T

p.P134S
p.A165V
p.A165V
p.A188V

21.2

-

Hu2022 T

ZC4H2

7-0248-003

chrX:
64617594-64617594

C

G

intergenic

De novo

-

-

Yuen2017 G

ZC4H2

08C73163

chrX:
64137745-64137745

C

T

exonic

De novo

nonsynonymous SNV

NM_001178033
NM_001178032
NM_001243804
NM_018684

c.G430A
c.G524A
c.G524A
c.G593A

p.G144R
p.R175Q
p.R175Q
p.R198Q

35.0

-

Satterstrom2020 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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