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Results for "ZFYVE28"

Variant Events: 11

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
ZFYVE28     13964.p1chr4:
2284561-2284561
CTintronicDe novo--Turner2016 G
ZFYVE28     3-0456-000Bchr4:
2337856-2337856
GAintronicDe novo--Yuen2017 G
ZFYVE28     2-1280-003chr4:
2325639-2325639
AGintronicDe novo--Yuen2017 G
ZFYVE28     AU056204chr4:
2296663-2296663
CTintronicDe novo--Yuen2017 G
ZFYVE28     2-1632-003chr4:
2272085-2272092
CAGAGTGGCUTR3De novo--Yuen2017 G
ZFYVE28     SP0014748chr4:
2321991-2321991
CTexonicDe novononsynonymous SNVNM_001172656
NM_001172659
NM_020972
c.G619A
c.G499A
c.G709A
p.V207M
p.V167M
p.V237M
26.92.481E-5Feliciano2019 E
ZFYVE28     AU3122301chr4:
2275439-2275439
CAintronicDe novo--Yuen2017 G
ZFYVE28     2-0238-003chr4:
2307566-2307566
TCintronicDe novo--Yuen2017 G
ZFYVE28     1-0579-003chr4:
2328448-2328448
GCintronicDe novo--Yuen2017 G
ZFYVE28     3-0456-000chr4:
2337856-2337856
GAintronicDe novo--Yuen2016 G
Yuen2017 G
ZFYVE28     74-0355chr4:
2296450-2296450
CTintronicDe novo--Michaelson2012 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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