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Results for "EYA3"

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
EYA3     mAGRE2045chr1:
28301043-28301044
GAGexonicPaternalframeshift deletionNM_001282561
NM_001282562
NM_001990
c.1517delT
c.1496delT
c.1655delT
p.F506fs
p.F499fs
p.F552fs
--Cirnigliaro2023 G
EYA3     mAGRE2043chr1:
28301043-28301044
GAGexonicPaternalframeshift deletionNM_001282561
NM_001282562
NM_001990
c.1517delT
c.1496delT
c.1655delT
p.F506fs
p.F499fs
p.F552fs
--Cirnigliaro2023 G
EYA3     AU0540301chr1:
28436481-28436481
CGintergenicDe novo--Yuen2017 G
EYA3     13171.p1chr1:
28368207-28368207
GAintronicDe novo--Turner2016 G
EYA3     iHART2043chr1:
28301043-28301044
GAGexonicPaternalframeshift deletionNM_001282561
NM_001282562
NM_001990
c.1517delT
c.1496delT
c.1655delT
p.F506fs
p.F499fs
p.F552fs
--Ruzzo2019 G
EYA3     AU038203chr1:
28308670-28308670
AGintronicDe novo--Trost2022 G
Yuen2017 G
EYA3     iHART2045chr1:
28301043-28301044
GAGexonicPaternalframeshift deletionNM_001282561
NM_001282562
NM_001990
c.1517delT
c.1496delT
c.1655delT
p.F506fs
p.F499fs
p.F552fs
--Ruzzo2019 G
EYA3     7-0140-003chr1:
28342267-28342267
CAintronicDe novo--Trost2022 G
Yuen2017 G
EYA3     REACH000293chr1:
28300820-28300820
GAUTR3De novo--Trost2022 G
EYA3     7-0256-003chr1:
28312016-28312016
GTintronicDe novo--Trost2022 G
Yuen2017 G
EYA3     MT_81.3chr1:
28373406-28373406
TTGintronicDe novo--Trost2022 G
EYA3     SP0126138chr1:
28316198-28316198
ACintronicDe novo--Trost2022 G
EYA3     5-0009-003 Complex Event; expand row to view variants  De novo--Trost2022 G
Trost2022 G
EYA3     SP0031674chr1:
28315063-28315063
TCexonicDe novononsynonymous SNVNM_001282560
NM_001282561
NM_001282562
NM_001990
c.A1385G
c.A1385G
c.A1364G
c.A1523G
p.Y462C
p.Y462C
p.Y455C
p.Y508C
24.2-Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
EYA3     7-0329-003chr1:
28395506-28395506
CTintronicDe novo--Trost2022 G
EYA3     2-1801-003chr1:
28413269-28413269
AGintronicDe novo--Trost2022 G
EYA3     2-1085-004chr1:
28300213-28300213
TCUTR3De novo--Yuen2017 G
EYA3     4-0017-003chr1:
28408230-28408230
GAintronicDe novo--Trost2022 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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