Variant Results

or

Results for "RC3H1"

Variant Events: 22

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

RC3H1

DEASD_0073_001

chr1:
173947626-173947626

C

T

exonic

De novo

nonsynonymous SNV

NM_001300850
NM_001300851
NM_001300852
NM_172071

c.G1102A
c.G1102A
c.G1102A
c.G1102A

p.D368N
p.D368N
p.D368N
p.D368N

35.0

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

RC3H1

AU1955302

chr1:
173999967-173999967

C

G

intergenic

De novo

-

Yuen2017 G

RC3H1

Codina-Sola2015:ASD_26

chr1:
173912624-173912624

G

A

exonic

Maternal

stopgain

NM_001300850
NM_001300851
NM_001300852
NM_172071

c.C3091T
c.C3064T
c.C3064T
c.C3091T

p.Q1031X
p.Q1022X
p.Q1022X
p.Q1031X

40.0

-

Codina-Sola2015 E

RC3H1

SP0068345

chr1:
173921192-173921192

C

T

exonic

De novo

nonsynonymous SNV

NM_001300850
NM_001300851
NM_001300852
NM_172071

c.G2455A
c.G2455A
c.G2455A
c.G2455A

p.G819S
p.G819S
p.G819S
p.G819S

26.6

-

Fu2022 E
Trost2022 G
Zhou2022 GE

RC3H1

1-0214-003

chr1:
173975331-173975331

C

T

intergenic

De novo

-

Trost2022 G
Yuen2017 G

RC3H1

iHART2284

chr1:
173910519-173910520

CT

C

splicing

Maternal

splicing

-

2.472E-5

Ruzzo2019 G

RC3H1

302-05-103645

chr1:
173962097-173962097

C

T

exonic

De novo

synonymous SNV

NM_001300850
NM_001300851
NM_001300852
NM_172071

c.G27A
c.G27A
c.G27A
c.G27A

p.T9T
p.T9T
p.T9T
p.T9T

-

2.0E-4

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

RC3H1

AU4231301

chr1:
174005856-174005856

G

A

intergenic

De novo

-

Yuen2017 G

RC3H1

AU4164301

chr1:
173951316-173951316

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

RC3H1

5-5046-007

chr1:
173989075-173989075

A

G

intergenic

De novo

-

Trost2022 G

RC3H1

mAGRE2284

chr1:
173910519-173910520

CT

C

splicing

Maternal

splicing

-

2.472E-5

Cirnigliaro2023 G

RC3H1

5-5031-004

chr1:
173926981-173926981

G

A

intronic

De novo

-

Trost2022 G

RC3H1

AU3861302

chr1:
173910519-173910520

CT

C

splicing

Maternal

splicing

-

2.472E-5

Cirnigliaro2023 G

RC3H1

200675533_1082034276

chr1:
173947674-173947674

G

A

exonic

De novo

stopgain

NM_001300850
NM_001300851
NM_001300852
NM_172071

c.C1054T
c.C1054T
c.C1054T
c.C1054T

p.R352X
p.R352X
p.R352X
p.R352X

37.0

8.237E-6

Fu2022 E

RC3H1

AU3861301

chr1:
173910519-173910520

CT

C

splicing

Maternal

splicing

-

2.472E-5

Cirnigliaro2023 G

RC3H1

AU1404302

chr1:
173910519-173910520

CT

C

splicing

Maternal

splicing

-

2.472E-5

Cirnigliaro2023 G

RC3H1

TRE_2153

chr1:
173962048-173962048

G

A

exonic

De novo

stopgain

NM_001300850
NM_001300851
NM_001300852
NM_172071

c.C76T
c.C76T
c.C76T
c.C76T

p.R26X
p.R26X
p.R26X
p.R26X

38.0

-

Fu2022 E

RC3H1

Chen2017:74

chr1:
173947674-173947674

G

A

exonic

De novo

stopgain

NM_001300850
NM_001300851
NM_001300852
NM_172071

c.C1054T
c.C1054T
c.C1054T
c.C1054T

p.R352X
p.R352X
p.R352X
p.R352X

37.0

8.237E-6

Chen2017 E

RC3H1

1-0485-003

chr1:
173967255-173967255

G

A

intergenic

De novo

-

Trost2022 G
Yuen2017 G

RC3H1

2-0304-003

chr1:
173920791-173920791

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

RC3H1

AU4343302

chr1:
174065710-174065710

C

T

intergenic

De novo

-

Yuen2017 G

RC3H1

2-1502-003

chr1:
174014538-174014538

A

C

intergenic

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
	More