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Results for "UTRN"

Variant Events: 104

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
UTRN     1-0971-003chr6:
145565511-145565513
GTTGTintergenicDe novo--Yuen2017 G
UTRN     2-0704-003chr6:
145428487-145428487
ACintergenicDe novo--Yuen2017 G
UTRN     1-0282-003chr6:
145128013-145128013
ATintronicDe novo--Yuen2017 G
UTRN     11002.p1chr6:
145093200-145093200
CTintronicDe novo--Turner2016 G
UTRN     7-0023-003chr6:
145251491-145251491
GTintergenicDe novo--Yuen2017 G
UTRN     2-1167-003chr6:
145619186-145619186
GAintergenicDe novo--Yuen2017 G
UTRN     PN400524chr6:
144835942-144835942
ACexonicUnknownnonsynonymous SNVNM_007124c.A5230Cp.I1744L23.70.0013Leblond2019 E
UTRN     MCD-001-3chr6:
144832168-144832168
GCexonicPaternalnonsynonymous SNVNM_007124c.G4853Cp.S1618T15.07-Tuncay2023 G
UTRN     1-0004-003chr6:
145675892-145675892
TGintergenicDe novo--Yuen2017 G
UTRN     1-0138-003chr6:
144840079-144840079
CTintronicDe novo--Trost2022 G
Yuen2017 G
UTRN     2-1261-004chr6:
144828187-144828187
GGATTCintronicDe novo--Trost2022 G
Yuen2017 G
UTRN     PN400412chr6:
144835942-144835942
ACexonicUnknownnonsynonymous SNVNM_007124c.A5230Cp.I1744L23.70.0013Leblond2019 E
UTRN     14407_p1chr6:
144803437-144803437
CTexonicDe novosynonymous SNVNM_007124c.C3600Tp.G1200G--Fu2022 E
UTRN     SP0002284chr6:
144747566-144747566
CTexonicDe novosynonymous SNVNM_007124c.C549Tp.L183L-3.336E-5Feliciano2019 E
Fu2022 E
Zhou2022 GE
UTRN     750_14auchr6:
144747578-144747578
TCexonicDe novosynonymous SNVNM_007124c.T561Cp.A187A--Fu2022 E
UTRN     1-0112-003chr6:
145807552-145807552
CCTTTTCATATAGintergenicDe novo--Yuen2017 G
UTRN     1-0226-005chr6:
144800199-144800199
TCintronicDe novo--Trost2022 G
Yuen2017 G
UTRN     2-0198-003chr6:
145254160-145254160
GAintergenicDe novo--Yuen2017 G
UTRN     A5chr6:
144967171-144967171
AGintronicDe novo--Wu2018 G
UTRN     2-1292-003chr6:
145385647-145385647
GAintergenicDe novo--Yuen2017 G
UTRN     1-0489-003chr6:
145642781-145642781
TAintergenicDe novo--Yuen2016 G
Yuen2017 G
UTRN     iHART2061chr6:
144852187-144852187
GAsplicingPaternalsplicing27.04.0E-4Ruzzo2019 G
UTRN     AU3951301chr6:
145426942-145426942
TAintergenicDe novo--Yuen2017 G
UTRN     7-0242-003chr6:
145923999-145923999
ATintergenicDe novo--Yuen2017 G
UTRN     2-1508-003chr6:
145569390-145569390
GAintergenicDe novo--Yuen2017 G
UTRN     PN400179chr6:
144835942-144835942
ACexonicUnknownnonsynonymous SNVNM_007124c.A5230Cp.I1744L23.70.0013Leblond2019 E
UTRN     AU4176302chr6:
145196673-145196673
CTintergenicDe novo--Yuen2017 G
UTRN     AU2485305chr6:
145192567-145192567
GAintergenicDe novo--Yuen2017 G
UTRN     1-0184-003chr6:
145898226-145898226
CTintergenicDe novo--Yuen2017 G
UTRN     PN400480chr6:
144835942-144835942
ACexonicUnknownnonsynonymous SNVNM_007124c.A5230Cp.I1744L23.70.0013Leblond2019 E
UTRN     MCD-001-3chr6:
144747588-144747588
CGexonicMaternalnonsynonymous SNVNM_007124c.C571Gp.R191G16.081.0E-4Tuncay2023 G
UTRN     PN400281chr6:
144835864-144835864
CTexonicUnknownnonsynonymous SNVNM_007124c.C5152Tp.R1718C18.952.472E-5Leblond2019 E
UTRN     1-0435-003chr6:
144925752-144925752
TAintronicDe novo--Trost2022 G
Yuen2017 G
UTRN     2-0299-003chr6:
145903878-145903878
TCintergenicDe novo--Yuen2017 G
UTRN     AU2793301chr6:
145728088-145728088
ACintergenicDe novo--Yuen2017 G
UTRN     SP0117913chr6:
145069346-145069346
CTintronicDe novo--Fu2022 E
Trost2022 G
UTRN     AU2950301chr6:
145432108-145432108
AGintergenicDe novo--Yuen2017 G
UTRN     SP0058451chr6:
144852422-144852422
ACintronicDe novo--Fu2022 E
UTRN     SP0004952chr6:
145157580-145157580
AGexonicDe novononsynonymous SNVNM_007124c.A9968Gp.Q3323R19.8-Fu2022 E
Trost2022 G
Zhou2022 GE
UTRN     AU3517302chr6:
145500454-145500454
CGintergenicDe novo--Yuen2017 G
UTRN     AU2299301chr6:
144618243-144618243
GAintronicDe novo--Trost2022 G
UTRN     Cukier2014:3836chr6:
144811319-144811319
AGexonicUnknownnonsynonymous SNVNM_007124c.A4247Gp.Q1416R14.440.0076Cukier2014 E
UTRN     MSSNG00331-003chr6:
144640295-144640295
ATintronicDe novo--Trost2022 G
UTRN     2-0088-003chr6:
144995237-144995237
TTAACCintronicDe novo--Trost2022 G
Yuen2017 G
UTRN     Cukier2014:7936chr6:
144854342-144854342
GAexonicUnknownnonsynonymous SNVNM_007124c.G6179Ap.G2060D14.10.0091Cukier2014 E
UTRN     7-0078-003chr6:
145665796-145665796
AGintergenicDe novo--Yuen2017 G
UTRN     5-0076-003chr6:
144785745-144785745
TCintronicDe novo--Trost2022 G
UTRN     14407.p1chr6:
144803437-144803437
CTexonicDe novosynonymous SNVNM_007124c.C3600Tp.G1200G--Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
UTRN     1-0750-003chr6:
144812520-144812520
GTintronicDe novo--Trost2022 G
UTRN     11028.p1chr6:
144852170-144852170
TGintronicDe novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
UTRN     SP0198497chr6:
144750707-144750707
CAintronicDe novo--Trost2022 G
UTRN     11040.p1chr6:
145079042-145079042
AGintronicDe novo-4.963E-5Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
UTRN     1-1167-003chr6:
144758068-144758068
AATGintronicDe novo--Trost2022 G
UTRN     7-0371-003chr6:
144652879-144652879
TCintronicDe novo--Trost2022 G
UTRN     AU4129303chr6:
145411376-145411376
TCintergenicDe novo--Yuen2017 G
UTRN     AU2303301chr6:
144658749-144658755
GTTATTAGintronicDe novo--Trost2022 G
UTRN     1-1175-003chr6:
144650350-144650350
CGintronicDe novo--Trost2022 G
UTRN     2-0132-004chr6:
145389287-145389287
CTintergenicDe novo--Yuen2017 G
UTRN     7-0277-003chr6:
144650460-144650460
GAintronicDe novo--Trost2022 G
UTRN     MSSNG00045-005chr6:
144908402-144908403
TGTintronicDe novo--Trost2022 G
UTRN     4-0062-003chr6:
144943037-144943038
ACGTintronicDe novo--Trost2022 G
UTRN     09C81124chr6:
144811185-144811185
CAintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
UTRN     2-0285-003chr6:
145031734-145031734
AGintronicDe novo--Trost2022 G
Yuen2017 G
UTRN     MSSNG00412-003chr6:
144893292-144893292
CTintronicDe novo--Trost2022 G
UTRN     MSSNG00359-004chr6:
144897096-144897096
TAintronicDe novo--Trost2022 G
UTRN     REACH000120chr6:
144865200-144865200
AGintronicDe novo--Trost2022 G
UTRN     7-0095-003chr6:
144812121-144812121
CTexonicDe novosynonymous SNVNM_007124c.C4320Tp.F1440F-1.659E-5Trost2022 G
Yuen2017 G
Zhou2022 GE
UTRN     2-1261-004chr6:
144892878-144892878
ATintronicDe novo--Trost2022 G
UTRN     3-0485-000Achr6:
144848463-144848463
AGintronicDe novo--Trost2022 G
UTRN     7-0298-004chr6:
144857136-144857136
GAintronicDe novo--Trost2022 G
UTRN     68504chr6:
145079042-145079042
AGintronicDe novo-4.963E-5Trost2022 G
UTRN     1-0112-004chr6:
145807552-145807552
CCTTTTCATATAGintergenicDe novo--Yuen2017 G
UTRN     AU2458302chr6:
145127699-145127699
TCintronicDe novo--Trost2022 G
UTRN     REACH000627chr6:
145061841-145061841
CTintronicDe novo--Trost2022 G
UTRN     REACH000145chr6:
145074646-145074646
TCintronicDe novo--Trost2022 G
UTRN     1-0150-003chr6:
145128013-145128013
ATintronicDe novo--Yuen2017 G
UTRN     3-0708-000chr6:
144961955-144961955
AATintronicDe novo--Trost2022 G
UTRN     5-5227-003chr6:
144977536-144977536
CCTintronicDe novo--Trost2022 G
UTRN     AU2562301chr6:
144960936-144960936
GAintronicDe novo--Trost2022 G
UTRN     REACH000246chr6:
144961429-144961429
TGintronicDe novo--Trost2022 G
UTRN     SJD_44.3chr6:
145152789-145152789
AGintronicDe novo--Trost2022 G
UTRN     REACH000446chr6:
145140632-145140632
ATintronicDe novo--Trost2022 G
UTRN     2-1749-003chr6:
145150309-145150309
TAintronicDe novo--Trost2022 G
UTRN     1-0044-003chr6:
145918321-145918321
CTintergenicDe novo--Yuen2017 G
UTRN     5-0026-003chr6:
145020952-145020952
AGintronicDe novo--Trost2022 G
Yuen2017 G
UTRN     5-0026-003chr6:
145662570-145662570
ATintergenicDe novo--Yuen2017 G
UTRN     2-1456-003chr6:
144898269-144898269
TAexonicDe novononsynonymous SNVNM_007124c.T7324Ap.W2442R5.983-Trost2022 G
Yuen2017 G
Zhou2022 GE
UTRN     1-0546-003chr6:
145851191-145851191
TGintergenicDe novo--Yuen2017 G
UTRN     SP0055091 Complex Event; expand row to view variants  De novoframeshift insertion, frameshift substitution, nonsynonymous SNVNM_007124
NM_007124
NM_007124
c.583_584insC
c.A584T
c.584_584delinsCT
p.D195fs
p.D195V
N/A
19.33-Trost2022 G
Trost2022 G
Zhou2022 GE
UTRN     AU075803chr6:
145705403-145705403
CTintergenicDe novo--Yuen2017 G
UTRN     1-0885-003chr6:
145112624-145112624
CTintronicDe novo--Trost2022 G
Yuen2017 G
UTRN     1-0025-004chr6:
144977393-144977393
GAintronicDe novo--Trost2022 G
Yuen2017 G
UTRN     2-0045-003chr6:
145396424-145396424
GAintergenicDe novo--Yuen2017 G
UTRN     1-0051-005chr6:
145338174-145338174
GCintergenicDe novo--Yuen2017 G
UTRN     3980_16mrchr6:
144745153-144745153
TCexonicDe novononsynonymous SNVNM_007124c.T344Cp.I115T22.3-Fu2022 E
UTRN     mAGRE4228chr6:
144852187-144852187
GAsplicingPaternalsplicing27.04.0E-4Cirnigliaro2023 G
UTRN     1-0219-003chr6:
145522125-145522125
CTintergenicDe novo--Yuen2017 G
UTRN     2-1261-003chr6:
144828187-144828187
GGATTCintronicDe novo--Yuen2017 G
UTRN     GM181795chr6:
144904785-144904785
TAintronicDe novo--Fu2022 E
UTRN     mAGRE2061chr6:
144852187-144852187
GAsplicingPaternalsplicing27.04.0E-4Cirnigliaro2023 G
UTRN     mAGRE6047chr6:
144780438-144780440
CTACexonicMaternalframeshift deletionNM_007124c.2656_2657delp.Y886fs-8.271E-6Cirnigliaro2023 G
UTRN     2-1280-003chr6:
145474571-145474585
CATATATATATATATCATATATATATATintergenicDe novo--Yuen2017 G
UTRN     09C89011chr6:
144747566-144747566
CTexonicDe novosynonymous SNVNM_007124c.C549Tp.L183L-3.336E-5DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
UTRN     1-0092-004chr6:
145858751-145858751
AGintergenicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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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
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