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Results for "SPEG"

Variant Events: 20

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
SPEG     PN400512chr2:
220342126-220342126
CTexonicUnknownnonsynonymous SNVNM_005876c.C4688Tp.A1563V26.10.0024Leblond2019 E
SPEG     3C567chr2:
220352979-220352979
CTexonicDe novononsynonymous SNVNM_005876c.C7805Tp.T2602I16.66-Satterstrom2020 E
SPEG     09C83070chr2:
220353298-220353298
GTexonicDe novononsynonymous SNVNM_005876c.G7937Tp.R2646L14.23-DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
SPEG     11516.p1chr2:
220333287-220333287
CTintronicDe novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
SPEG     08C77997chr2:
220354457-220354457
TGexonicDe novononsynonymous SNVNM_005876c.T8717Gp.F2906C8.679-Lim2017 E
SPEG     14572.p1chr2:
220341659-220341659
GTexonicDe novosynonymous SNVNM_005876c.G4515Tp.A1505A--Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
SPEG     14342.p1chr2:
220342027-220342027
ATexonicDe novononsynonymous SNVNM_005876c.A4589Tp.H1530L17.74-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
SPEG     2-1719-003chr2:
220310195-220310195
TAintronicDe novo--Yuen2017 G
SPEG     Lim2017:36903chr2:
220341659-220341659
GTexonicDe novosynonymous SNVNM_005876c.G4515Tp.A1505A--Lim2017 E
SPEG     G01-GEA-85-HIchr2:
220313785-220313785
GTexonicDe novosynonymous SNVNM_005876c.G1905Tp.A635A--Lim2017 E
SPEG     2-1250-003chr2:
220300405-220300422
CTCCTGGGGGAAAGGGTGCintronicDe novo--Yuen2017 G
SPEG     7-0161-003chr2:
220329308-220329308
CTexonicDe novosynonymous SNVNM_001173476
NM_005876
c.C312T
c.C2859T
p.C104C
p.C953C
-8.0E-4Yuen2017 G
SPEG     11715.p1chr2:
220336637-220336637
GAexonicMosaicnonsynonymous SNVNM_005876c.G3763Ap.A1255T20.68.327E-6Dou2017 E
SPEG     AU4468301chr2:
220356765-220356765
AGintronicDe novo--Yuen2017 G
SPEG     AU024104chr2:
220300161-220300161
CTintronicDe novo--Yuen2017 G
SPEG     AU1933301chr2:
220320901-220320901
AGintronicDe novo--Yuen2017 G
SPEG     11484.p1chr2:
220336553-220336553
GAintronicDe novo-2.518E-5Satterstrom2020 E
SPEG     DEASD_1050_001chr2:
220307856-220307856
TCintronicDe novo10.81-Satterstrom2020 E
SPEG     SP0040398chr2:
220354232-220354232
CTexonicDe novononsynonymous SNVNM_005876c.C8492Tp.A2831V7.1191.677E-5Feliciano2019 E
SPEG     SP0007121chr2:
220312856-220312856
GCexonicDe novononsynonymous SNVNM_005876c.G976Cp.A326P11.39-Feliciano2019 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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