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Results for "ELL"

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
ELL     JASD_Fam0198chr19:
18557559-18557559
GCexonicDe novononsynonymous SNVNM_006532c.C1531Gp.L511V3.451-Takata2018 E
ELL     AU3861303chr19:
18632871-18632871
GAUTR5De novo-8.793E-6Yuen2017 G
ELL     AU4463303chr19:
18559302-18559302
GAintronicDe novo--Yuen2017 G
ELL     5141_201_childchr19:
18576690-18576690
CTexonicDe novosynonymous SNVNM_006532c.G222Ap.A74A-1.212E-5Neale2012 E
ELL     1-0458-004chr19:
18553344-18553344
GAdownstreamDe novo--Yuen2017 G
ELL     2-1359-003chr19:
18552939-18552939
AACACCACACACCAACACACACCACACCdownstreamDe novo--Yuen2017 G
ELL     2-0318-004chr19:
18552929-18552929
CCAdownstreamDe novo--Yuen2017 G
ELL     80001100820chr19:
18572379-18572379
GAintronicDe novo-2.676E-5Satterstrom2020 E
ELL     2-0318-003chr19:
18552939-18552939
AACATACCACACCCACACCACACACCCACACACACCACACCdownstreamDe 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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