Variant Results

or

Results for "ZC3H18"

Variant Events: 16

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

ZC3H18

NDAR_INVPW419PR4_wes1

chr16:
88690961-88690961

G

T

intronic

De novo

-

Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

ZC3H18

14039.p1

Complex Event; expand row to view variants

De novo

frameshift insertion

NM_144604
NM_001294340
NM_144604
NM_001294340

c.1981_1982insAAGCCAGGAGACCCTCGGG
c.2053_2054insAAGCCAGGAGACCCTCGGG
c.1980_1981insAAGCCAGGAGACCCTCGGG
c.2052_2053insAAGCCAGGAGACCCTCGGG

p.K661fs
p.K685fs
p.T660fs
p.T684fs

-

Ji2016 E
Krumm2015 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

ZC3H18

2-0145-003

chr16:
88638767-88638767

A

G

intronic

De novo

-

Yuen2017 G

ZC3H18

09C80227

chr16:
88675395-88675395

G

A

exonic

De novo

nonsynonymous SNV

NM_144604
NM_001294340

c.G1142A
c.G1214A

p.R381H
p.R405H

24.1

2.0E-4

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ZC3H18

1-0706-003

chr16:
88646178-88646178

C

T

intronic

De novo

-

Trost2022 G

ZC3H18

REACH000233

chr16:
88647465-88647465

C

G

intronic

De novo

-

Trost2022 G

ZC3H18

1-0255-003

chr16:
88674341-88674341

T

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ZC3H18

REACH000233

chr16:
88638194-88638194

C

T

intronic

De novo

-

Trost2022 G

ZC3H18

SSC10285

chr16:
88691091-88691091

C

CAAGCCAGGAGACCCTCGGG

exonic

frameshift insertion

NM_144604
NM_001294340

c.1980_1981insAAGCCAGGAGACCCTCGGG
c.2052_2053insAAGCCAGGAGACCCTCGGG

p.T660fs
p.T684fs

-

Antaki2022 GE

ZC3H18

AU4246304

chr16:
88670725-88670725

C

G

intronic

De novo

-

Yuen2017 G

ZC3H18

AU3760301

chr16:
88662383-88662383

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZC3H18

REACH000701

chr16:
88673814-88673817

TAAA

T

intronic

De novo

-

Trost2022 G

ZC3H18

Codina-Sola2015:ASD_32

chr16:
88677720-88677726

CGAGCGG

C

exonic

Maternal

nonframeshift deletion

NM_144604
NM_001294340

c.1252_1257del
c.1324_1329del

p.418_419del
p.442_443del

-

0.0061

Codina-Sola2015 E

ZC3H18

AU2227301

chr16:
88691669-88691669

G

A

exonic

De novo

nonsynonymous SNV

NM_144604
NM_001294340

c.G2102A
c.G2174A

p.R701Q
p.R725Q

17.89

2.735E-5

Trost2022 G
Zhou2022 GE

ZC3H18

REACH000233

chr16:
88647686-88647686

G

A

intronic

De novo

-

Trost2022 G

ZC3H18

SP0005632

chr16:
88665008-88665008

C

T

intronic

De novo

-

0.0016

Trost2022 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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