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Results for "HIVEP3"

Variant Events: 34

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
HIVEP3     13874.p1chr1:
42138750-42138750
CAintronicDe novo--Turner2016 G
HIVEP3     7-0128-003chr1:
42296864-42296864
TCintronicDe novo--Yuen2017 G
HIVEP3     11940.p1 Complex Event; expand row to view variants  De novoframeshift insertionNM_001127714
NM_024503
NM_001127714
NM_024503
c.1753dupC
c.1753dupC
c.1752dupC
c.1752dupC
p.R585fs
p.R585fs
p.R585fs
p.R585fs
--Dong2014 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
HIVEP3     1-0440-003chr1:
42384202-42384202
CTUTR5De novo--Yuen2017 G
HIVEP3     PN400297chr1:
42047450-42047450
CTexonicUnknownnonsynonymous SNVNM_001127714
NM_024503
c.G3019A
c.G3019A
p.E1007K
p.E1007K
32.02.0E-4Leblond2019 E
HIVEP3     2-1350-003chr1:
42409717-42409717
TGintergenicDe novo--Yuen2017 G
HIVEP3     AU4483301chr1:
42154650-42154650
GAintronicDe novo--Yuen2017 G
HIVEP3     AU066104chr1:
42273829-42273829
CTintronicDe novo--Yuen2017 G
HIVEP3     AU3399302chr1:
42456236-42456236
CAintergenicDe novo--Yuen2017 G
HIVEP3     M08680chr1:
41976726-41976726
CTexonicMaternalnonsynonymous SNVNM_001127714
NM_024503
c.G6614A
c.G6617A
p.R2205Q
p.R2206Q
31.01.66E-5Guo2018 T
Wang2016 T
HIVEP3     M08539chr1:
41976751-41976751
CTexonicMaternalnonsynonymous SNVNM_001127714
NM_024503
c.G6589A
c.G6592A
p.G2197S
p.G2198S
31.08.281E-6Guo2018 T
Wang2016 T
HIVEP3     74-0352chr1:
41976742-41976742
GAexonicDe novostopgainNM_001127714
NM_024503
c.C6598T
c.C6601T
p.Q2200X
p.Q2201X
51.0-Michaelson2012 G
HIVEP3     AU058103chr1:
42054954-42054954
GAintronicDe novo--Yuen2017 G
HIVEP3     A31chr1:
42421728-42421728
CAintergenicDe novo--Wu2018 G
HIVEP3     1-0382-003chr1:
42148327-42148327
GAintronicDe novo--Yuen2017 G
HIVEP3     1-0269-003chr1:
42098346-42098346
GCintronicDe novo--Yuen2017 G
HIVEP3     2-1406-003chr1:
42002622-42002622
TAintronicDe novo--Yuen2016 G
Yuen2017 G
HIVEP3     G01-GEA-167-HIchr1:
41978764-41978764
CTexonicDe novononsynonymous SNVNM_001127714
NM_024503
c.G6128A
c.G6128A
p.R2043K
p.R2043K
13.98-Lim2017 E
Satterstrom2020 E
HIVEP3     13028.p1chr1:
42118663-42118663
TCintronicDe novo--Wilfert2021 G
HIVEP3     AU4231301chr1:
42414551-42414551
CAintergenicDe novo--Yuen2017 G
HIVEP3     1-0683-003chr1:
42473417-42473417
AGintergenicDe novo--Yuen2017 G
HIVEP3     11010.p1chr1:
42046980-42046980
GAexonicMosaicsynonymous SNVNM_001127714
NM_024503
c.C3489T
c.C3489T
p.F1163F
p.F1163F
--Dou2017 E
HIVEP3     2-1442-003chr1:
42442446-42442446
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
HIVEP3     07C65492chr1:
42048494-42048494
CTexonicUnknownnonsynonymous SNVNM_001127714
NM_024503
c.G1975A
c.G1975A
p.E659K
p.E659K
34.04.118E-5Stessman2017 T
HIVEP3     03C16243chr1:
41976742-41976742
GAexonicDe novostopgainNM_001127714
NM_024503
c.C6598T
c.C6601T
p.Q2200X
p.Q2201X
51.0-Stessman2017 T
HIVEP3     PN400213chr1:
42047450-42047450
CTexonicUnknownnonsynonymous SNVNM_001127714
NM_024503
c.G3019A
c.G3019A
p.E1007K
p.E1007K
32.02.0E-4Leblond2019 E
HIVEP3     AU035204chr1:
41976742-41976742
GAexonicDe novostopgainNM_001127714
NM_024503
c.C6598T
c.C6601T
p.Q2200X
p.Q2201X
51.0-Stessman2017 T
Stessman2017 T
HIVEP3     7-0082-003chr1:
42280598-42280598
CCTTTTTGintronicDe novo--Yuen2017 G
HIVEP3     M13300chr1:
41979349-41979349
GAexonicUnknownnonsynonymous SNVNM_001127714
NM_024503
c.C5543T
c.C5543T
p.S1848L
p.S1848L
35.08.508E-6Guo2018 T
Wang2016 T
HIVEP3     2-1242-003chr1:
42030207-42030207
ACintronicDe novo--Yuen2016 G
Yuen2017 G
HIVEP3     5-0077-004chr1:
42215491-42215491
GAintronicDe novo--Yuen2017 G
HIVEP3     PN400321chr1:
41984079-41984079
CTexonicUnknownnonsynonymous SNVNM_001127714
NM_024503
c.G5464A
c.G5464A
p.E1822K
p.E1822K
25.44.0E-4Leblond2019 E
HIVEP3     iHART1245chr1:
41976742-41976742
GAexonicDe novostopgainNM_001127714
NM_024503
c.C6598T
c.C6601T
p.Q2200X
p.Q2201X
51.0-Ruzzo2019 G
HIVEP3     HN0012.p1chr1:
41979410-41979410
CTexonicMaternalnonsynonymous SNVNM_001127714
NM_024503
c.G5482A
c.G5482A
p.D1828N
p.D1828N
33.03.674E-5Guo2018 T
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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