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Results for "HIVEP1"

Variant Events: 22

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
HIVEP1     PN400231chr6:
12124319-12124319
CTexonicUnknownnonsynonymous SNVNM_002114c.C4291Tp.R1431W21.44.97E-5Leblond2019 E
HIVEP1     2-1505-004chr6:
12198254-12198254
CTintergenicDe novo--Yuen2017 G
HIVEP1     1-0570-003chr6:
12100757-12100757
AGintronicDe novo--Yuen2017 G
HIVEP1     AU4159301chr6:
12119163-12119163
CGintronicDe novo--Yuen2017 G
HIVEP1     PN400230chr6:
12124319-12124319
CTexonicUnknownnonsynonymous SNVNM_002114c.C4291Tp.R1431W21.44.97E-5Leblond2019 E
HIVEP1     Cukier2014:37024chr6:
12163802-12163802
GAexonicUnknownnonsynonymous SNVNM_002114c.G7265Ap.G2422E23.23.0E-4Cukier2014 E
HIVEP1     AU3874302chr6:
12052219-12052219
GCintronicDe novo--Yuen2017 G
HIVEP1     14176.p1chr6:
12121059-12121059
ACexonicDe novononsynonymous SNVNM_002114c.A1031Cp.Q344P16.65-Ji2016 E
Krumm2015 E
Satterstrom2020 E
HIVEP1     AU015903chr6:
12275219-12275219
CTintergenicDe novo--Yuen2017 G
HIVEP1     AU1795302chr6:
12262337-12262337
CTintergenicDe novo--Yuen2017 G
HIVEP1     AU2156303chr6:
12161239-12161239
TAintronicDe novo--Yuen2017 G
HIVEP1     2-0109-003chr6:
12029268-12029268
CTintronicDe novo--Yuen2017 G
HIVEP1     PN400232chr6:
12124319-12124319
CTexonicUnknownnonsynonymous SNVNM_002114c.C4291Tp.R1431W21.44.97E-5Leblond2019 E
HIVEP1     AU046707chr6:
12120831-12120831
CGexonicDe novononsynonymous SNVNM_002114c.C803Gp.A268G4.44-Yuen2017 G
HIVEP1     2-1142-003chr6:
12049792-12049792
AGintronicDe novo--Yuen2017 G
HIVEP1     AU3905301chr6:
12131032-12131032
GAexonicDe novononsynonymous SNVNM_002114c.G6242Ap.R2081Q36.01.666E-5Yuen2017 G
HIVEP1     14390.p1chr6:
12221026-12221026
CAintergenicDe novo--Werling2018 G
HIVEP1     5-0073-003chr6:
12164947-12164957
ATATATTATATATATATUTR3De novo--Yuen2017 G
HIVEP1     AU4029301chr6:
12125257-12125257
GAexonicDe novosynonymous SNVNM_002114c.G5229Ap.S1743S-8.295E-6Yuen2017 G
HIVEP1     80001101237chr6:
12163712-12163712
CTexonicDe novononsynonymous SNVNM_002114c.C7175Tp.S2392L22.2-Satterstrom2020 E
HIVEP1     NDAR_INVXK925MMP_wes1chr6:
12123505-12123505
AGexonicDe novosynonymous SNVNM_002114c.A3477Gp.P1159P--DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
HIVEP1     NDAR_INVHK229EUH_wes1chr6:
12164097-12164097
CTexonicDe novosynonymous SNVNM_002114c.C7560Tp.V2520V-7.454E-5DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
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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