or
or
Exact

Results for "EVC2"

Variant Events: 33

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
EVC2     2-0143-004chr4:
5591015-5591015
TAintronicDe novo--Trost2022 G
Yuen2017 G
EVC2     iHART1461chr4:
5630381-5630381
ACexonicPaternalstopgainNM_001166136
NM_147127
c.T1551G
c.T1791G
p.Y517X
p.Y597X
45.0-Ruzzo2019 G
EVC2     10-1120-003Achr4:
5578661-5578661
GAintronicDe novo--Trost2022 G
EVC2     mAGRE1461chr4:
5630381-5630381
ACexonicPaternalstopgainNM_001166136
NM_147127
c.T1551G
c.T1791G
p.Y517X
p.Y597X
45.0-Cirnigliaro2023 G
EVC2     A12011-1chr4:
5633568-5633569
CACexonicUnknownstopgainNM_001166136
NM_147127
c.1421delT
c.1661delT
p.L474X
p.L554X
--Li2017 T
EVC2     AU2231301chr4:
5598039-5598039
GCintronicDe novo--Trost2022 G
EVC2     mAGRE4432chr4:
5630317-5630317
GAexonicPaternalstopgainNM_001166136
NM_147127
c.C1615T
c.C1855T
p.Q539X
p.Q619X
46.08.238E-6Cirnigliaro2023 G
EVC2     mAGRE5709chr4:
5620291-5620291
GAexonicPaternalstopgainNM_001166136
NM_147127
c.C2380T
c.C2620T
p.R794X
p.R874X
47.01.671E-5Cirnigliaro2023 G
EVC2     iHART1462chr4:
5630381-5630381
ACexonicPaternalstopgainNM_001166136
NM_147127
c.T1551G
c.T1791G
p.Y517X
p.Y597X
45.0-Ruzzo2019 G
EVC2     4-0062-003chr4:
5575491-5575492
CGAAintronicDe novo--Trost2022 G
EVC2     SP0069673chr4:
5664895-5664895
CTexonicDe novononsynonymous SNVNM_001166136
NM_147127
c.G844A
c.G1084A
p.D282N
p.D362N
17.812.471E-5Fu2022 E
Trost2022 G
Zhou2022 GE
EVC2     A12011-1chr4:
5633571-5633573
TTCTexonicUnknownframeshift deletionNM_001166136
NM_147127
c.1417_1418del
c.1657_1658del
p.E473fs
p.E553fs
--Li2017 T
EVC2     AU4412302chr4:
5701476-5701476
GAintronicDe novo--Trost2022 G
Yuen2017 G
EVC2     SP0147824chr4:
5710102-5710102
GAexonicDe novononsynonymous SNVNM_147127c.C139Tp.P47S14.77-Trost2022 G
EVC2     MSSNG00032-003chr4:
5619366-5619366
GAintronicDe novo--Trost2022 G
EVC2     AU046506chr4:
5661261-5661261
GAintronicDe novo--Trost2022 G
EVC2     1-0568-003chr4:
5655287-5655287
GAintronicDe novo--Trost2022 G
Yuen2017 G
EVC2     MSSNG00202-003chr4:
5598108-5598108
GAintronicDe novo--Trost2022 G
EVC2     AU3712301chr4:
5683025-5683025
TAexonicMaternalstopgainNM_001166136
NM_147127
c.A592T
c.A832T
p.K198X
p.K278X
41.0-Cirnigliaro2023 G
EVC2     14-1011chr4:
5612526-5612526
TCintronicDe novo--Trost2022 G
EVC2     mAGRE1462chr4:
5630381-5630381
ACexonicPaternalstopgainNM_001166136
NM_147127
c.T1551G
c.T1791G
p.Y517X
p.Y597X
45.0-Cirnigliaro2023 G
EVC2     14088.p1chr4:
5627591-5627591
CAexonicMosaicnonsynonymous SNVNM_001166136
NM_147127
c.G1691T
c.G1931T
p.R564L
p.R644L
22.9-Dou2017 E
EVC2     SP0009287chr4:
5586394-5586394
GCexonicDe novononsynonymous SNVNM_001166136
NM_147127
c.C2773G
c.C3013G
p.L925V
p.L1005V
13.17-Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE
EVC2     3-0430-000chr4:
5590292-5590292
TGintronicDe novo--Trost2022 G
Yuen2016 G
EVC2     14590.p1chr4:
5691139-5691139
GAintronicDe novo--Turner2016 G
EVC2     13191.p1chr4:
5687134-5687134
TCexonicDe novononsynonymous SNVNM_001166136
NM_147127
c.A539G
c.A779G
p.K180R
p.K260R
9.742-Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE
EVC2     A9chr4:
5633569-5633573
AATTCAexonicDe novoframeshift deletionNM_001166136
NM_147127
c.1417_1420del
c.1657_1660del
p.E473fs
p.E553fs
--Wu2018 G
EVC2     SSC07302chr4:
5687134-5687134
TCexonicDe novononsynonymous SNVNM_001166136
NM_147127
c.A539G
c.A779G
p.K180R
p.K260R
9.742-Fu2022 E
Lim2017 E
Trost2022 G
EVC2     AU2089302chr4:
5687461-5687461
GCintronicDe novo--Trost2022 G
Yuen2017 G
EVC2     AU062204chr4:
5596809-5596809
GCintronicDe novo--Trost2022 G
Yuen2017 G
EVC2     1-0534-004chr4:
5659032-5659032
GAintronicDe novo--Trost2022 G
Yuen2017 G
EVC2     2-0045-003chr4:
5576169-5576169
CAintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
EVC2     09C83621chr4:
5664988-5664988
CTintronicDe novo-1.649E-5Satterstrom2020 E
Trost2022 G
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