Variant Results

or

Results for "CYFIP2"

Variant Events: 18

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

CYFIP2

AU2863303

chr5:
156733916-156733916

A

C

intronic

De novo

-

Yuen2017 G

CYFIP2

1-0401-003

chr5:
156836863-156836865

CAA

C

intergenic

De novo

-

Yuen2017 G

CYFIP2

Chen2017:113

chr5:
156819928-156819928

G

A

exonic

De novo

nonsynonymous SNV

NM_001291721
NM_001037333
NM_014376
NM_001291722

c.G3604A
c.G3682A
c.G3682A
c.G3757A

p.V1202M
p.V1228M
p.V1228M
p.V1253M

19.15

-

Chen2017 E

CYFIP2

200675707_1082034133

chr5:
156819928-156819928

G

A

exonic

De novo

nonsynonymous SNV

NM_001291721
NM_001037333
NM_014376
NM_001291722

c.G3604A
c.G3682A
c.G3682A
c.G3757A

p.V1202M
p.V1228M
p.V1228M
p.V1253M

19.15

-

Fu2022 E

CYFIP2

Krgovic2022:046526

chr5:
156712411-156712411

G

A

exonic

Unknown

nonsynonymous SNV

NM_001037333
NM_001291721
NM_001291722
NM_014376

c.G40A
c.G40A
c.G40A
c.G40A

p.V14M
p.V14M
p.V14M
p.V14M

33.0

-

Krgovic2022 E

CYFIP2

SP0069609

chr5:
156752564-156752564

C

T

exonic

De novo

stopgain

NM_001291721
NM_001037333
NM_014376
NM_001291722

c.C1822T
c.C1900T
c.C1900T
c.C1975T

p.R608X
p.R634X
p.R634X
p.R659X

43.0

-

Antaki2022 GE
Fu2022 E

CYFIP2

AU4463303

chr5:
156786602-156786602

A

C

intronic

De novo

-

Yuen2017 G

CYFIP2

SP0026446

chr5:
156742062-156742062

G

A

exonic

De novo

nonsynonymous SNV

NM_001291721
NM_001037333
NM_001291722
NM_014376

c.G1238A
c.G1316A
c.G1316A
c.G1316A

p.R413H
p.R439H
p.R439H
p.R439H

25.3

-

Antaki2022 GE
Fu2022 E

CYFIP2

SP0036879

chr5:
156766185-156766185

G

A

exonic

De novo

nonsynonymous SNV

NM_001291721
NM_001037333
NM_014376
NM_001291722

c.G2428A
c.G2506A
c.G2506A
c.G2581A

p.G810S
p.G836S
p.G836S
p.G861S

35.0

-

Antaki2022 GE
Fu2022 E

CYFIP2

SP0023931

chr5:
156766099-156766099

C

T

exonic

De novo

nonsynonymous SNV

NM_001291721
NM_001037333
NM_014376
NM_001291722

c.C2342T
c.C2420T
c.C2420T
c.C2495T

p.T781M
p.T807M
p.T807M
p.T832M

24.1

1.915E-5

Antaki2022 GE
Fu2022 E

CYFIP2

1397_17au

chr5:
156746855-156746855

C

T

exonic

De novo

nonsynonymous SNV

NM_001291721
NM_001037333
NM_001291722
NM_014376

c.C1364T
c.C1442T
c.C1442T
c.C1442T

p.A455V
p.A481V
p.A481V
p.A481V

21.4

8.251E-6

Fu2022 E

CYFIP2

AU3903301

chr5:
156757233-156757233

G

A

intronic

De novo

-

Yuen2017 G

CYFIP2

1-0597-003

chr5:
156736643-156736643

G

A

intronic

De novo

-

Yuen2017 G

CYFIP2

AU0039303

chr5:
156861352-156861352

C

T

intergenic

De novo

-

Yuen2017 G

CYFIP2

2-1460-003

chr5:
156793311-156793311

T

C

intronic

De novo

-

Yuen2017 G

CYFIP2

200675707@1082034133

chr5:
156819928-156819928

G

A

exonic

De novo

nonsynonymous SNV

NM_001291721
NM_001037333
NM_014376
NM_001291722

c.G3604A
c.G3682A
c.G3682A
c.G3757A

p.V1202M
p.V1228M
p.V1228M
p.V1253M

19.15

-

Satterstrom2020 E

CYFIP2

SP0053180

chr5:
156746776-156746776

G

A

exonic

De novo

nonsynonymous SNV

NM_001291721
NM_001037333
NM_001291722
NM_014376

c.G1285A
c.G1363A
c.G1363A
c.G1363A

p.A429T
p.A455T
p.A455T
p.A455T

28.0

-

Fu2022 E

CYFIP2

1-0446-003

chr5:
156812942-156812945

AAAG

A

intronic

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
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