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Results for "NEB"

Variant Events: 30

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
NEB     Li2017:23278chr2:
152492740-152492740
CTsplicingUnknownsplicing16.04-Li2017 T
NEB     2-1406-003chr2:
152579310-152579310
CTintronicDe novo--Yuen2016 G
Yuen2017 G
NEB     SSC06883chr2:
152512435-152512435
TCexonicDe novononsynonymous SNVNM_001164507
NM_001164508
NM_001271208
NM_004543
c.A6598G
c.A6598G
c.A6598G
c.A6598G
p.S2200G
p.S2200G
p.S2200G
p.S2200G
22.9-Lim2017 E
NEB     Li2017:17671chr2:
152426863-152426863
ATexonicUnknownnonsynonymous SNVNM_004543
NM_001164507
NM_001164508
NM_001271208
c.T12023A
c.T17162A
c.T17162A
c.T17162A
p.V4008E
p.V5721E
p.V5721E
p.V5721E
27.7-Li2017 T
NEB     13080.p1chr2:
152512435-152512435
TCexonicDe novononsynonymous SNVNM_001164507
NM_001164508
NM_001271208
NM_004543
c.A6598G
c.A6598G
c.A6598G
c.A6598G
p.S2200G
p.S2200G
p.S2200G
p.S2200G
22.9-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
NEB     2-0215-003chr2:
152504585-152504587
AAGAintronicDe novo--Yuen2017 G
NEB     Li2017:19574chr2:
152388388-152388388
TCexonicUnknownnonsynonymous SNVNM_004543
NM_001164507
NM_001164508
NM_001271208
c.A16301G
c.A21440G
c.A21440G
c.A21545G
p.E5434G
p.E7147G
p.E7147G
p.E7182G
32.0-Li2017 T
NEB     AU061104chr2:
152580263-152580264
TGTintronicDe novo--Yuen2017 G
NEB     Al-Mubarak2017:ASD-39chr2:
152518680-152518680
AGexonicUnknownnonsynonymous SNVNM_001164507
NM_001164508
NM_001271208
NM_004543
c.T5939C
c.T5939C
c.T5939C
c.T5939C
p.L1980S
p.L1980S
p.L1980S
p.L1980S
22.33.0E-4Al-Mubarak2017 E
NEB     AU3122301chr2:
152631450-152631450
AGintergenicDe novo--Yuen2017 G
NEB     Li2017:23065chr2:
152388389-152388389
CTexonicUnknownnonsynonymous SNVNM_004543
NM_001164507
NM_001164508
NM_001271208
c.G16300A
c.G21439A
c.G21439A
c.G21544A
p.E5434K
p.E7147K
p.E7147K
p.E7182K
36.0-Li2017 T
NEB     AU3721302chr2:
152433855-152433855
GAintronicDe novo--Yuen2017 G
NEB     1-0248-003chr2:
152354959-152354963
AGAGTAGAGTGAGTintronicDe novo--Yuen2017 G
NEB     1-0467-005chr2:
152371231-152371235
CAGTTCintronicDe novo--Yuen2017 G
NEB     1-0285-004chr2:
152582645-152582645
TCintronicDe novo--Yuen2017 G
NEB     5-0045-003chr2:
152457981-152457981
TAintronicDe novo--Yuen2017 G
NEB     AU3727303chr2:
152558165-152558165
GAintronicDe novo--Yuen2017 G
NEB     Li2017:17508chr2:
152520238-152520238
CAexonicUnknownstopgainNM_001164507
NM_001164508
NM_001271208
NM_004543
c.G5587T
c.G5587T
c.G5587T
c.G5587T
p.E1863X
p.E1863X
p.E1863X
p.E1863X
47.0-Li2017 T
NEB     Cukier2014:37674chr2:
152468776-152468776
TCexonicUnknownnonsynonymous SNVNM_004543
NM_001164507
NM_001164508
NM_001271208
c.A10964G
c.A11729G
c.A11729G
c.A11729G
p.D3655G
p.D3910G
p.D3910G
p.D3910G
15.550.0149Cukier2014 E
NEB     A27chr2:
152478813-152478813
AGintronicDe novo--Wu2018 G
NEB     Li2017:17585chr2:
152524365-152524365
CTexonicUnknownnonsynonymous SNVNM_001164507
NM_001164508
NM_001271208
NM_004543
c.G4672A
c.G4672A
c.G4672A
c.G4672A
p.A1558T
p.A1558T
p.A1558T
p.A1558T
32.0-Li2017 T
NEB     Li2017:17574chr2:
152352831-152352831
CTexonicUnknownnonsynonymous SNVNM_004543
NM_001164507
NM_001164508
NM_001271208
c.G18841A
c.G24445A
c.G24445A
c.G24550A
p.E6281K
p.E8149K
p.E8149K
p.E8184K
25.23.065E-5Li2017 T
NEB     1-0387-003chr2:
152424685-152424685
TCexonicDe novononsynonymous SNVNM_004543
NM_001164507
NM_001164508
NM_001271208
c.A12605G
c.A17744G
c.A17744G
c.A17744G
p.Y4202C
p.Y5915C
p.Y5915C
p.Y5915C
25.7-Yuen2016 G
Yuen2017 G
NEB     11625.p1chr2:
152425538-152425538
GCintronicDe novo--Wilfert2021 G
NEB     14523.p1chr2:
152403966-152403966
AGexonicDe novononsynonymous SNVNM_004543
NM_001164507
NM_001164508
NM_001271208
c.T15205C
c.T20344C
c.T20344C
c.T20344C
p.Y5069H
p.Y6782H
p.Y6782H
p.Y6782H
18.84-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
NEB     Li2017:17593chr2:
152470807-152470807
AGexonicUnknownnonsynonymous SNVNM_004543
NM_001164507
NM_001164508
NM_001271208
c.T10819C
c.T11584C
c.T11584C
c.T11584C
p.Y3607H
p.Y3862H
p.Y3862H
p.Y3862H
20.3-Li2017 T
NEB     08C74775chr2:
152512711-152512711
TCexonicDe novononsynonymous SNVNM_001164507
NM_001164508
NM_001271208
NM_004543
c.A6451G
c.A6451G
c.A6451G
c.A6451G
p.M2151V
p.M2151V
p.M2151V
p.M2151V
13.46-Satterstrom2020 E
NEB     14256.p1chr2:
152543981-152543981
GAexonicMosaicsynonymous SNVNM_001164507
NM_001164508
NM_001271208
NM_004543
c.C2589T
c.C2589T
c.C2589T
c.C2589T
p.D863D
p.D863D
p.D863D
p.D863D
-1.0E-4Krupp2017 E
NEB     iHART3308chr2:
152544248-152544248
CGsplicingPaternalsplicing21.7-Ruzzo2019 G
NEB     iHART2230chr2:
152361990-152361990
AGsplicingMaternalsplicing18.141.657E-5Ruzzo2019 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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