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Results for "CYFIP2"

Variant Events: 10

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     AU2863303chr5:
156733916-156733916
ACintronicDe novo--Yuen2017 G
CYFIP2     1-0401-003chr5:
156836863-156836865
CAACintergenicDe novo--Yuen2017 G
CYFIP2     1-0597-003chr5:
156736643-156736643
GAintronicDe novo--Yuen2017 G
CYFIP2     AU0039303chr5:
156861352-156861352
CTintergenicDe novo--Yuen2017 G
CYFIP2     2-1460-003chr5:
156793311-156793311
TCintronicDe novo--Yuen2017 G
CYFIP2     Chen2017:113chr5:
156819928-156819928
GAexonicDe novononsynonymous SNVNM_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@1082034133chr5:
156819928-156819928
GAexonicDe novononsynonymous SNVNM_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     AU4463303chr5:
156786602-156786602
ACintronicDe novo--Yuen2017 G
CYFIP2     1-0446-003chr5:
156812942-156812945
AAAGAintronicDe novo--Yuen2017 G
CYFIP2     AU3903301chr5:
156757233-156757233
GAintronicDe novo--Yuen2017 G
Source Variant Information

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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 notesView
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