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Results for "STAB2"

Variant Events: 44

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     AU3964302chr12:
104162145-104162145
GAintergenicDe novo--Yuen2017 G
STAB2     AU2166301chr12:
104134466-104134466
GTexonicnonsynonymous SNVNM_017564c.G5813Tp.R1938L12.73-Zhou2022 GE
STAB2     10291chr12:
104109603-104109603
GAexonicDe novosynonymous SNVNM_017564c.G4548Ap.P1516P-1.648E-5Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
STAB2     AU076508chr12:
104107499-104107499
TCexonicDe novononsynonymous SNVNM_017564c.T4490Cp.V1497A4.884-Trost2022 G
Yuen2017 G
Zhou2022 GE
STAB2     MSSNG00404-003chr12:
104018665-104018665
GAintronicDe novo--Trost2022 G
STAB2     REACH000209chr12:
104029026-104029026
GAintronicDe novo--Trost2022 G
STAB2     AU2293301chr12:
104134522-104134522
CTexonicPaternalstopgainNM_017564c.C5869Tp.R1957X47.01.653E-5Cirnigliaro2023 G
STAB2     3-0305-000chr12:
103994637-103994638
ACTTTCAAAGintronicDe novo--Trost2022 G
STAB2     mAGRE3127chr12:
104042529-104042529
CTexonicMaternalstopgainNM_017564c.C1102Tp.R368X40.04.944E-5Cirnigliaro2023 G
STAB2     2-0142-004chr12:
103994638-103994638
CGGATGTGTTGGGGintronicDe novo--Trost2022 G
STAB2     mAGRE4436chr12:
103981288-103981288
GTexonicPaternalstopgainNM_017564c.G34Tp.G12X38.01.696E-5Cirnigliaro2023 G
STAB2     AU2729301chr12:
103990555-103990555
GAintronicDe novo--Trost2022 G
STAB2     1-0901-003chr12:
103994637-103994638
ACTTTCAAAGintronicDe novo--Trost2022 G
STAB2     AU3790301chr12:
104039611-104039611
GAintronicDe novo--Yuen2017 G
STAB2     CC1041_203chr12:
104125459-104125459
AGintronicDe novo--Fu2022 E
STAB2     iHART2855chr12:
104134522-104134522
CTexonicPaternalstopgainNM_017564c.C5869Tp.R1957X47.01.653E-5Ruzzo2019 G
STAB2     MSSNG00346-004chr12:
104136371-104136371
TCintronicDe novo--Trost2022 G
STAB2     iHART3127chr12:
104042529-104042529
CTexonicMaternalstopgainNM_017564c.C1102Tp.R368X40.04.944E-5Ruzzo2019 G
STAB2     5-0023-003chr12:
104147750-104147750
CTintronicDe novo--Trost2022 G
STAB2     BRK-84-01chr12:
104138971-104138971
GAexonicDe novononsynonymous SNVNM_017564c.G6052Ap.G2018R16.137.555E-5Abdi2023 G
STAB2     041-07-107684chr12:
104122683-104122683
CTexonicDe novosynonymous SNVNM_017564c.C4992Tp.V1664V-8.24E-6Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
STAB2     3-0019-000chr12:
104124682-104124682
GAintronicDe novo--Trost2022 G
STAB2     Lim2017:10291chr12:
104109603-104109603
GAexonicDe novosynonymous SNVNM_017564c.G4548Ap.P1516P-1.648E-5Lim2017 E
STAB2     SP0170557chr12:
104136355-104136355
GAintronicDe novo-8.286E-6Trost2022 G
STAB2     AU2283301chr12:
104067896-104067896
CTintronicDe novo-1.7E-5Trost2022 G
STAB2     3-0647-000chr12:
104074072-104074072
AGintronicDe novo--Trost2022 G
STAB2     SP0219648chr12:
104031846-104031846
CAexonicDe novostopgainNM_017564c.C762Ap.Y254X37.0-Trost2022 G
STAB2     1-0755-003chr12:
104142942-104142942
GAintronicDe novo-9.136E-6Trost2022 G
Yuen2017 G
Zhou2022 GE
STAB2     SP0228512chr12:
104048516-104048516
CTintronicDe novo--Trost2022 G
STAB2     SP0073280chr12:
104107528-104107528
GAexonicDe novononsynonymous SNVNM_017564c.G4519Ap.D1507N18.66-Fu2022 E
Trost2022 G
Zhou2022 GE
STAB2     SP0066581chr12:
104144393-104144393
GAexonicDe novononsynonymous SNVNM_017564c.G6475Ap.G2159R23.07.416E-5Fu2022 E
Trost2022 G
Zhou2022 GE
STAB2     1-0054-004chr12:
104075695-104075695
CGintronicDe novo--Trost2022 G
Yuen2017 G
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     SP0111241chr12:
104144353-104144353
ACintronicDe novo--Fu2022 E
Trost2022 G
Zhou2022 GE
STAB2     SP0027502chr12:
104077061-104077061
GAexonicDe novononsynonymous SNVNM_017564c.G2884Ap.G962R3.9083.296E-5Fu2022 E
Trost2022 G
Zhou2022 GE
STAB2     SP0010628chr12:
103984796-103984796
TAexonicDe novononsynonymous SNVNM_017564c.T203Ap.V68D15.148.238E-6Fu2022 E
Trost2022 G
Zhou2022 GE
STAB2     SP0025795chr12:
104144514-104144514
GAintronicDe novo-9.328E-6Fu2022 E
Trost2022 G
STAB2     SP0071856chr12:
104034075-104034075
GAintronicDe novo--Fu2022 E
Trost2022 G
STAB2     Cukier2014:37994chr12:
104138980-104138980
GAexonicUnknownnonsynonymous SNVNM_017564c.G6061Ap.D2021N15.450.009Cukier2014 E
STAB2     AU039903chr12:
104147084-104147084
GAexonicUnknownnonsynonymous SNVNM_017564c.G6667Ap.E2223K17.671.0E-4Chahrour2012 E
STAB2     AU3713302chr12:
104027809-104027809
TCintronicDe novo--Trost2022 G
Yuen2017 G
STAB2     1-0190-003chr12:
104114198-104114198
CGintronicDe novo--Trost2022 G
Yuen2017 G
STAB2     2-1425-004chr12:
103983021-103983021
CTintronicDe novo--Trost2022 G
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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