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Results for "STAB2"

Variant Events: 17

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
STAB2     1-0366-003chr12:
104107450-104107450
GAexonicDe novononsynonymous SNVNM_017564c.G4441Ap.G1481S22.38.237E-6Yuen2015 G
STAB2     AU039903chr12:
104046355-104046355
AGexonicUnknownnonsynonymous SNVNM_017564c.A1279Gp.N427D11.740.005Chahrour2012 E
STAB2     AU3964302chr12:
104162145-104162145
GAintergenicDe novo--Yuen2017 G
STAB2     10291chr12:
104109603-104109603
GAexonicDe novosynonymous SNVNM_017564c.G4548Ap.P1516P-1.648E-5Satterstrom2020 E
STAB2     AU076508chr12:
104107499-104107499
TCexonicDe novononsynonymous SNVNM_017564c.T4490Cp.V1497A4.884-Yuen2017 G
STAB2     Cukier2014:37994chr12:
104138980-104138980
GAexonicUnknownnonsynonymous SNVNM_017564c.G6061Ap.D2021N15.450.009Cukier2014 E
STAB2     AU3790301chr12:
104039611-104039611
GAintronicDe novo--Yuen2017 G
STAB2     AU039903chr12:
104147084-104147084
GAexonicUnknownnonsynonymous SNVNM_017564c.G6667Ap.E2223K17.671.0E-4Chahrour2012 E
STAB2     iHART2855chr12:
104134522-104134522
CTexonicPaternalstopgainNM_017564c.C5869Tp.R1957X47.01.653E-5Ruzzo2019 G
STAB2     AU3713302chr12:
104027809-104027809
TCintronicDe novo--Yuen2017 G
STAB2     iHART3127chr12:
104042529-104042529
CTexonicMaternalstopgainNM_017564c.C1102Tp.R368X40.04.944E-5Ruzzo2019 G
STAB2     041-07-107684chr12:
104122683-104122683
CTexonicDe novosynonymous SNVNM_017564c.C4992Tp.V1664V-8.24E-6Satterstrom2020 E
STAB2     1-0190-003chr12:
104114198-104114198
CGintronicDe novo--Yuen2017 G
STAB2     Lim2017:10291chr12:
104109603-104109603
GAexonicDe novosynonymous SNVNM_017564c.G4548Ap.P1516P-1.648E-5Lim2017 E
STAB2     1-0755-003chr12:
104142942-104142942
GAintronicDe novo-9.136E-6Yuen2017 G
STAB2     2-1425-004chr12:
103983021-103983021
CTintronicDe novo--Yuen2017 G
STAB2     1-0054-004chr12:
104075695-104075695
CGintronicDe novo--Yuen2017 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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