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Results for "EPHA7"

Variant Events: 29

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
EPHA7     AU051504chr6:
94252948-94252948
CTintergenicDe novo--Yuen2017 G
EPHA7     AU3794302chr6:
94210576-94210576
TCintergenicDe novo--Yuen2017 G
EPHA7     AU4028302chr6:
94207183-94207183
CAintergenicDe novo--Yuen2017 G
EPHA7     MT_179.4chr6:
93957951-93957951
AGintronicDe novo--Trost2022 G
EPHA7     PN400495chr6:
93964371-93964371
AATexonicUnknownframeshift insertionNM_001288629
NM_004440
c.2510dupA
c.2525dupA
p.N837fs
p.N842fs
--Leblond2019 E
EPHA7     1-1115-003chr6:
94065780-94065780
TAintronicDe novo--Trost2022 G
EPHA7     AU3517302chr6:
94110369-94110369
AGintronicDe novo--Yuen2017 G
EPHA7     AU2355301chr6:
94126936-94126936
ACintronicDe novo--Trost2022 G
EPHA7     AU055603chr6:
94059860-94059860
TGintronicDe novo--Trost2022 G
EPHA7     7-0202-003chr6:
94062372-94062372
TCintronicDe novo--Trost2022 G
EPHA7     2-1567-004chr6:
94013010-94013011
ATCCintronicDe novo--Trost2022 G
EPHA7     7-0465-003chr6:
94019180-94019186
TATAATCTintronicDe novo--Trost2022 G
EPHA7     AU046708chr6:
94360837-94360837
CTintergenicDe novo--Yuen2017 G
EPHA7     AU2437302chr6:
94380216-94380216
CTintergenicDe novo--Yuen2017 G
EPHA7     AU2288301chr6:
93994793-93994793
ACintronicDe novo--Trost2022 G
EPHA7     1-0263-003Bchr6:
94009926-94009926
TCintronicDe novo--Trost2022 G
EPHA7     AU3371305chr6:
94152049-94152049
AGintergenicDe novo--Yuen2017 G
EPHA7     1-0045-003chr6:
94053747-94053747
GCintronicDe novo--Trost2022 G
Yuen2017 G
EPHA7     2-1143-003chr6:
94372612-94372612
TCintergenicDe novo--Yuen2017 G
EPHA7     1-0969-003chr6:
94275267-94275267
GCintergenicDe novo--Yuen2017 G
EPHA7     1-0263-003chr6:
94009926-94009926
TCintronicDe novo--Yuen2016 G
EPHA7     SP0046803chr6:
94120443-94120443
TCexonicDe novononsynonymous SNVNM_001288629
NM_001288630
NM_004440
c.A608G
c.A608G
c.A608G
p.K203R
p.K203R
p.K203R
23.18.251E-6Fu2022 E
Trost2022 G
Zhou2022 GE
EPHA7     1-0669-003chr6:
94208784-94208784
AGintergenicDe novo--Yuen2017 G
EPHA7     AU4394302chr6:
94210472-94210472
CAintergenicDe novo--Yuen2017 G
EPHA7     5-0065-003chr6:
94279307-94279307
CTintergenicDe novo--Yuen2017 G
EPHA7     1-0526-003chr6:
94380491-94380491
TCintergenicDe novo--Yuen2017 G
EPHA7     2-1356-003chr6:
94269372-94269372
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
EPHA7     2-1153-003chr6:
94049757-94049757
ACintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
EPHA7     AU1933302chr6:
94035464-94035464
TGintronicDe 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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