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Results for "BEND4"

Variant Events: 16

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
BEND4     A20chr4:
42256848-42256848
AGintergenicDe novo--Wu2018 G
BEND4     14109.p1chr4:
42340193-42340193
GTintergenicDe novo--Wilfert2021 G
BEND4     AU1795303chr4:
42303445-42303445
CTintergenicDe novo--Yuen2017 G
BEND4     2-0305-004chr4:
42294449-42294450
TGTintergenicDe novo--Yuen2017 G
BEND4     2-1195-003chr4:
42285265-42285265
GAintergenicDe novo--Yuen2016 G
BEND4     1-0330-003chr4:
42161952-42161952
CTintergenicDe novo--Yuen2017 G
BEND4     AU4306302chr4:
42251753-42251753
AGintergenicDe novo--Yuen2017 G
BEND4     1-0336-004chr4:
42147638-42147638
GCintronicDe novo--Yuen2017 G
BEND4     Codina-Sola2015:ASD_16chr4:
42119582-42119582
GAexonicMaternalstopgainNM_207406c.C1558Tp.Q520X40.0-Codina-Sola2015 E
BEND4     AU008505chr4:
42294311-42294311
AGintergenicDe novo--Yuen2017 G
BEND4     AU2072302chr4:
42308786-42308786
CTintergenicDe novo--Yuen2017 G
BEND4     AU3716301chr4:
42236359-42236359
ATintergenicDe novo--Yuen2017 G
BEND4     AU3779304chr4:
42157323-42157323
CTintergenicDe novo--Yuen2017 G
BEND4     3-0432-000chr4:
42245159-42245159
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
BEND4     5-0077-004chr4:
42299155-42299155
CAintergenicDe novo--Yuen2017 G
BEND4     1-0401-003chr4:
42206032-42206032
TTAintergenicDe 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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