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Results for "HIVEP2"

Variant Events: 15

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
HIVEP2     2-0285-004chr6:
143139390-143139390
CTintronicDe novo--Yuen2017 G
HIVEP2     Ishay2021:13chr6:
143092151-143092151
TCexonicInheritednonsynonymous SNVNM_006734c.A3725Gp.Y1242C13.520.0189Ishay2021 E
HIVEP2     Ishay2021:12chr6:
143092754-143092754
GAexonicInheritednonsynonymous SNVNM_006734c.C3122Tp.A1041V13.470.0204Ishay2021 E
HIVEP2     Ishay2021:15chr6:
143092754-143092754
GAexonicInheritednonsynonymous SNVNM_006734c.C3122Tp.A1041V13.470.0204Ishay2021 E
HIVEP2     Ishay2021:14chr6:
143092151-143092151
TCexonicInheritednonsynonymous SNVNM_006734c.A3725Gp.Y1242C13.520.0189Ishay2021 E
HIVEP2     SP0005126chr6:
143081418-143081418
GAexonicDe novostopgainNM_006734c.C6007Tp.Q2003X51.0-Antaki2022 GE
Fu2022 E
HIVEP2     AU3806304chr6:
143233014-143233014
CTintronicDe novo--Yuen2017 G
HIVEP2     A7chr6:
143186305-143186305
AGintronicDe novo--Wu2018 G
HIVEP2     CC1073_201chr6:
143092794-143092794
GAexonicDe novostopgainNM_006734c.C3082Tp.R1028X47.0-Fu2022 E
HIVEP2     2-1359-003chr6:
143167946-143167946
GGAintronicDe novo--Yuen2017 G
HIVEP2     2-1441-003chr6:
143162634-143162634
AGintronicDe novo--Yuen2016 G
Yuen2017 G
HIVEP2     CC1073.201chr6:
143092794-143092794
GAexonicDe novostopgainNM_006734c.C3082Tp.R1028X47.0-Satterstrom2020 E
HIVEP2     AU2950302chr6:
143182251-143182251
TCintronicDe novo--Yuen2017 G
HIVEP2     08C75206chr6:
143095233-143095233
GAexonicDe novononsynonymous SNVNM_006734c.C643Tp.R215W16.91-Fu2022 E
Satterstrom2020 E
HIVEP2     1-0007-003chr6:
143279994-143279994
ACintergenicDe 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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