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Results for "EPHA1"

Variant Events: 11

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
EPHA1     NDAR_INVGR248DPC_wes1chr7:
143094794-143094794
GAintronicDe novo-1.705E-5Kosmicki2017 E
Satterstrom2020 E
EPHA1     SP0009634chr7:
143097002-143097002
CTexonicDe novononsynonymous SNVNM_005232c.G577Ap.A193T20.3-Feliciano2019 E
EPHA1     002-09-110644chr7:
143095978-143095978
CAexonicDe novononsynonymous SNVNM_005232c.G1052Tp.R351L5.858-Satterstrom2020 E
EPHA1     Cukier2014:17545chr7:
143095153-143095153
CTexonicUnknownnonsynonymous SNVNM_005232c.G1475Ap.R492Q2.8140.0121Cukier2014 E
EPHA1     iHART2730chr7:
143095834-143095834
AAGCCCCCGGexonicPaternalframeshift insertionNM_005232c.1195_1196insCCGGGGGCp.L399fs-9.964E-5Ruzzo2019 G
EPHA1     iHART2731chr7:
143095834-143095834
AAGCCCCCGGexonicPaternalframeshift insertionNM_005232c.1195_1196insCCGGGGGCp.L399fs-9.964E-5Ruzzo2019 G
EPHA1     72-0745chr7:
143088585-143088585
GAexonicInheritednonsynonymous SNVNM_005232c.C2896Tp.R966C21.41.658E-5Patowary2019 E
EPHA1     12840.p1chr7:
143094667-143094667
CTexonicDe novononsynonymous SNVNM_005232c.G1699Ap.V567I0.0389.911E-5Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
EPHA1     iHART1738chr7:
143095109-143095109
GAexonicPaternalstopgainNM_005232c.C1519Tp.Q507X37.0-Ruzzo2019 G
EPHA1     iHART1740chr7:
143095109-143095109
GAexonicPaternalstopgainNM_005232c.C1519Tp.Q507X37.0-Ruzzo2019 G
EPHA1     458-04-101669chr7:
143092572-143092572
CTexonicDe novosynonymous SNVNM_005232c.G1923Ap.G641G--Satterstrom2020 E
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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