or
or
Exact

Results for "EPHA1"

Variant Events: 21

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     mAGRE2731chr7:
143095834-143095834		AAGCCCCCGGexonicPaternalframeshift insertionNM_005232c.1195_1196insCCGGGGGCp.L399fs-9.964E-5Cirnigliaro2023 G
EPHA1     SP0009634chr7:
143097002-143097002		CTexonicDe novononsynonymous SNVNM_005232c.G577Ap.A193T20.3-Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE
EPHA1     mAGRE2730chr7:
143095834-143095834		AAGCCCCCGGexonicPaternalframeshift insertionNM_005232c.1195_1196insCCGGGGGCp.L399fs-9.964E-5Cirnigliaro2023 G
EPHA1     SP0145320chr7:
143094640-143094640		GCintronicDe novo--Trost2022 G
EPHA1     mAGRE1740chr7:
143095109-143095109		GAexonicPaternalstopgainNM_005232c.C1519Tp.Q507X37.0-Cirnigliaro2023 G
EPHA1     002-09-110644chr7:
143095978-143095978		CAexonicDe novononsynonymous SNVNM_005232c.G1052Tp.R351L5.858-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
EPHA1     2-1806-003chr7:
143099417-143099417		CTintronicDe novo--Trost2022 G
EPHA1     mAGRE1738chr7:
143095109-143095109		GAexonicPaternalstopgainNM_005232c.C1519Tp.Q507X37.0-Cirnigliaro2023 G
EPHA1     mAGRE4322chr7:
143091436-143091436		CAexonicPaternalstopgainNM_005232c.G2353Tp.G785X40.08.274E-6Cirnigliaro2023 G
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     SSC06202chr7:
143094667-143094667		CTexonicDe novononsynonymous SNVNM_005232c.G1699Ap.V567I0.0389.911E-5Fu2022 E
Trost2022 G
EPHA1     iHART1738chr7:
143095109-143095109		GAexonicPaternalstopgainNM_005232c.C1519Tp.Q507X37.0-Ruzzo2019 G
EPHA1     iHART1740chr7:
143095109-143095109		GAexonicPaternalstopgainNM_005232c.C1519Tp.Q507X37.0-Ruzzo2019 G
EPHA1     2878_18mrchr7:
143094860-143094860		TCintronicDe novo--Fu2022 E
EPHA1     NDAR_INVGR248DPC_wes1chr7:
143094794-143094794		GAintronicDe novo-1.705E-5Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
EPHA1     Cukier2014:17545chr7:
143095153-143095153		CTexonicUnknownnonsynonymous SNVNM_005232c.G1475Ap.R492Q2.8140.0121Cukier2014 E
EPHA1     SP0013216chr7:
143098514-143098514		CTexonicDe novononsynonymous SNVNM_005232c.G335Ap.G112E12.071.653E-5Fu2022 E
Trost2022 G
Zhou2022 GE
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
Zhou2022 GE
EPHA1     458-04-101669chr7:
143092572-143092572		CTexonicDe novosynonymous SNVNM_005232c.G1923Ap.G641G--Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
Source Variant Information

, -

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
More

VariCarta Copyright © 2016-2023 Contact Us