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Results for "EPHB6"

Variant Events: 5

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
EPHB6     1044chr7:
142561449-142561449
GAexonicnonsynonymous SNVNM_004445c.G161Ap.G54E19.034.13E-5Zhou2022 GE
EPHB6     1-0067-004chr7:
142567510-142567510
GTintronicDe novo--Trost2022 G
Yuen2017 G
EPHB6     SP0122755chr7:
142561447-142561447
AAGexonicDe novoframeshift insertionNM_004445c.160dupGp.P53fs-8.277E-5Fu2022 E
Trost2022 G
Zhou2022 GE
EPHB6     12681_p1chr7:
142564780-142564780
CTexonicDe novosynonymous SNVNM_001280795
NM_004445
NM_001280794
c.C828T
c.C1704T
c.C828T
p.H276H
p.H568H
p.H276H
-8.323E-6Fu2022 E
EPHB6     12681.p1chr7:
142564780-142564780
CTexonicDe novosynonymous SNVNM_001280795
NM_004445
NM_001280794
c.C828T
c.C1704T
c.C828T
p.H276H
p.H568H
p.H276H
-8.323E-6Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE
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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