Variant Results

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Results for "CYFIP1"

Variant Events: 12

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

CYFIP1

F10154-1

chr15:
22991178-22991178

T

G

exonic

De novo

nonsynonymous SNV

NM_001033028
NM_014608
NM_001287810

c.T1574G
c.T2867G
c.T2867G

p.M525R
p.M956R
p.M956R

28.5

-

Satterstrom2020 E
Zhou2022 GE

CYFIP1

02C11650

chr15:
22956307-22956307

G

C

exonic

De novo

nonsynonymous SNV

NM_001033028

c.G251C

p.G84A

9.083

-

Satterstrom2020 E
Zhou2022 GE

CYFIP1

Alvarez-Mora2016:ASD-15

chr15:
22956343-22956343

C

T

exonic

Paternal

nonsynonymous SNV

NM_001033028

c.C287T

p.A96V

9.773

Alvarez-Mora2016 T

CYFIP1

MT_109

chr15:
22969287-22969287

G

C

exonic

Maternal

nonsynonymous SNV

NM_001033028
NM_014608
NM_001287810

c.G1220C
c.G2513C
c.G2513C

p.R407T
p.R838T
p.R838T

27.3

-

Toma2013 E

CYFIP1

Codina-Sola2015:ASD_26

chr15:
22956139-22956139

C

T

exonic

Paternal

nonsynonymous SNV

NM_001033028

c.C83T

p.T28M

15.48

Codina-Sola2015 E

CYFIP1

SP0055262

chr15:
22997827-22997827

G

A

exonic

nonsynonymous SNV

NM_001033028
NM_014608
NM_001287810

c.G1780A
c.G3073A
c.G3073A

p.A594T
p.A1025T
p.A1025T

23.4

Zhou2022 GE

CYFIP1

5-0088-003

chr15:
22923028-22923028

T

C

intronic

De novo

-

-

Yuen2017 G

CYFIP1

SP0112493

chr15:
22955236-22955236

G

A

exonic

nonsynonymous SNV

NM_014608
NM_001287810

c.G1630A
c.G1630A

p.D544N
p.D544N

15.82

Zhou2022 GE

CYFIP1

7-0102-003

chr15:
22989099-22989099

C

T

intronic

De novo

-

-

Yuen2017 G

CYFIP1

AU039304

chr15:
22981623-22981642

CTTTTTATTTTTTATTTTTT

CTTTTTATTTTTTATTTTTTATTTTTT

intronic

De novo

-

-

Yuen2017 G

CYFIP1

02C11650

chr15:
22956309-22956309

G

C

exonic

De novo

nonsynonymous SNV

NM_001033028

c.G253C

p.E85Q

8.817

-

Trost2022 G

CYFIP1

2-1152-003

chr15:
22909711-22909711

C

T

intronic

De novo

-

-

Yuen2016 G
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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