Variant Results

or

Results for "CPSF3"

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

CPSF3

7-0167-003

chr2:
9588430-9588430

G

A

exonic

De novo

nonsynonymous SNV

NM_016207

c.G1346A

p.R449Q

22.6

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

CPSF3

REACH000520

chr2:
9571212-9571212

A

C

intronic

De novo

-

Trost2022 G

CPSF3

1-1186-003

chr2:
9569918-9569918

A

G

intronic

De novo

-

Trost2022 G

CPSF3

1-0441-003

chr2:
9592775-9592775

G

C

intronic

De novo

-

Yuen2017 G

CPSF3

13311.p1

chr2:
9588447-9588447

A

C

exonic

De novo

nonsynonymous SNV

NM_016207

c.A1363C

p.T455P

16.67

-

Ji2016 E
Krumm2015 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

CPSF3

MSSNG00066-004

chr2:
9587267-9587271

TTAAA

T

intronic

De novo

-

Trost2022 G

CPSF3

AU2162302

chr2:
9586277-9586278

AC

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CPSF3

7-0095-004

chr2:
9612161-9612161

G

GGCCA

intronic

De novo

-

Trost2022 G
Yuen2017 G

CPSF3

SP0022099

chr2:
9599633-9599633

T

C

intronic

De novo

-

Fu2022 E

CPSF3

2-1315-003

chr2:
9606000-9606016

GGTGTGTGTGTGTGTGT

GGTGTGTGTGTGTGT

intronic

De novo

-

Yuen2017 G

CPSF3

SP0157554

chr2:
9564163-9564164

TC

T

intronic

De novo

-

Trost2022 G
Trost2022 G

CPSF3

13311_p1

chr2:
9588447-9588447

A

C

exonic

De novo

nonsynonymous SNV

NM_016207

c.A1363C

p.T455P

16.67

-

Fu2022 E

CPSF3

SP0010792

chr2:
9611478-9611478

A

G

exonic

De novo

nonsynonymous SNV

NM_016207

c.A1863G

p.I621M

11.41

-

Fu2022 E
Trost2022 G
Zhou2022 GE

CPSF3

1-0381-003

chr2:
9606000-9606016

GGTGTGTGTGTGTGTGT

GGTGTGTGTGTGTGT

intronic

De novo

-

Yuen2017 G

CPSF3

SP0087397

chr2:
9572805-9572805

C

T

exonic

De novo

synonymous SNV

NM_016207

c.C507T

p.I169I

-

1.668E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

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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