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Results for "EED"

Variant Events: 9

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
EED     5-0054-003chr11:
85965806-85965806
GCintronicDe novo--Trost2022 G
EED     3-0434-000chr11:
85989629-85989629
AGUTR3De novo--Trost2022 G
Yuen2016 G
Yuen2017 G
EED     5-0025-004chr11:
85982309-85982309
CTintronicDe novo--Trost2022 G
Yuen2017 G
EED     AU4056301chr11:
85992482-85992482
TCintergenicDe novo--Yuen2017 G
EED     AU3645301chr11:
85960279-85960279
GAintronicDe novo--Trost2022 G
Yuen2017 G
EED     1-0150-004chr11:
85983097-85983097
GGCTGTTGGTTTintronicDe novo--Yuen2017 G
EED     1-0206-005chr11:
85970261-85970265
TTTTTAAAAAAAAintronicDe novo--Trost2022 G
EED     SP0066073chr11:
85968585-85968585
AGexonicDe novononsynonymous SNVNM_001308007
NM_003797
c.A581G
c.A581G
p.N194S
p.N194S
25.0-Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
EED     1-0760-004chr11:
85986270-85986270
CTintronicDe 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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