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Results for "TLK2"

Variant Events: 39

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
TLK2     SP0120019chr17:
60650761-60650761
CGintronicDe novo--Fu2022 E
Trost2022 G
TLK2     7-0256-003chr17:
60692013-60692013
GAUTR3De novo--Trost2022 G
Yuen2017 G
TLK2     SP0083440chr17:
60600538-60600538
GTexonicDe novononsynonymous SNVNM_001284363
NM_001284333
NM_006852
c.G267T
c.G267T
c.G267T
p.E89D
p.E89D
p.E89D
14.85-Fu2022 E
Trost2022 G
Zhou2022 GE
TLK2     G01-GEA-292-HIchr17:
60663513-60663514
GCGexonicDe novoframeshift deletionNM_001284363
NM_006852
NM_001284333
c.1291delC
c.1387delC
c.1453delC
p.Q431fs
p.Q463fs
p.Q485fs
--Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
TLK2     SP0105547chr17:
60650623-60650623
GAexonicDe novononsynonymous SNVNM_001284363
NM_001284333
NM_006852
c.G920A
c.G1016A
c.G1016A
p.R307Q
p.R339Q
p.R339Q
19.09-Fu2022 E
Trost2022 G
Zhou2022 GE
TLK2     08C77167chr17:
60650729-60650729
GGTsplicingDe novosplicing--Satterstrom2020 E
Trost2022 G
Zhou2022 GE
TLK2     SSC11069chr17:
60655892-60655894
CATCexonicframeshift deletionNM_001284363
NM_006852
NM_001284333
c.1148_1149del
c.1244_1245del
c.1310_1311del
p.H383fs
p.H415fs
p.H437fs
--Antaki2022 GE
TLK2     2-1406-003 Complex Event; expand row to view variants  De novo--Yuen2016 G
Yuen2017 G
TLK2     SP0293701chr17:
60650580-60650580
CTexonicstopgainNM_001284363
NM_001284333
NM_006852
c.C877T
c.C973T
c.C973T
p.Q293X
p.Q325X
p.Q325X
36.0-Zhou2022 GE
TLK2     SP0148386chr17:
60600541-60600541
ACintronicDe novo--Trost2022 G
Zhou2022 GE
TLK2     1-0951-003chr17:
60609564-60609564
AGintronicDe novo--Trost2022 G
TLK2     5-5203-003chr17:
60614659-60614659
TCintronicDe novo--Trost2022 G
TLK2     5-5069-003chr17:
60556441-60556441
GCUTR5De novo--Trost2022 G
TLK2     MSSNG00032-003chr17:
60562408-60562409
CACintronicDe novo--Trost2022 G
TLK2     SP0346573chr17:
60663548-60663548
AATexonicframeshift insertionNM_001284363
NM_006852
NM_001284333
c.1326dupT
c.1422dupT
c.1488dupT
p.N442fs
p.N474fs
p.N496fs
--Zhou2022 GE
TLK2     2-0159-003chr17:
60689666-60689668
GCCGintronicDe novo--Trost2022 G
TLK2     2-1581-003chr17:
60684399-60684399
ACintronicDe novo--Trost2022 G
TLK2     2-0159-003chr17:
60689654-60689664
TATTTGCTCTGGAAintronicDe novo--Trost2022 G
TLK2     REACH000409chr17:
60682053-60682053
TCintronicDe novo--Trost2022 G
TLK2     5-5012-003chr17:
60682437-60682437
CTintronicDe novo--Trost2022 G
TLK2     SSC11008chr17:
60663599-60663599
TTTGAGTGTCintronicDe novo--Trost2022 G
TLK2     REACH000409 Complex Event; expand row to view variants  De novo--Trost2022 G
Trost2022 G
TLK2     SP0106257chr17:
60599598-60599598
CTexonicnonsynonymous SNVNM_001284363
NM_001284333
NM_006852
c.C187T
c.C187T
c.C187T
p.R63W
p.R63W
p.R63W
13.41-Zhou2022 GE
TLK2     14266.p1chr17:
60655892-60655894
CATCexonicDe novoframeshift deletionNM_001284363
NM_006852
NM_001284333
c.1148_1149del
c.1244_1245del
c.1310_1311del
p.H383fs
p.H415fs
p.H437fs
--Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE
TLK2     13708.p1chr17:
60679466-60679466
CTexonicDe novononsynonymous SNVNM_001284363
NM_006852
NM_001284333
c.C1688T
c.C1784T
c.C1850T
p.S563L
p.S595L
p.S617L
16.99-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
TLK2     07C66440chr17:
60657466-60657466
CGintronicDe novo--Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
TLK2     2-1178-003chr17:
60636751-60636751
TAintronicDe novo--Yuen2017 G
TLK2     AU3727303chr17:
60647505-60647505
TCintronicDe novo--Trost2022 G
Yuen2017 G
TLK2     ASC_11455-1chr17:
60558517-60558517
CTexonicDe novostopgainNM_001284363
NM_001284333
NM_006852
c.C31T
c.C31T
c.C31T
p.R11X
p.R11X
p.R11X
35.0-Fu2022 E
TLK2     2-1205-003chr17:
60561905-60561905
CTintronicDe novo--Yuen2017 G
TLK2     AU3806304chr17:
60592731-60592731
GAintronicDe novo--Trost2022 G
Yuen2017 G
TLK2     14266_p1chr17:
60655892-60655894
CATCexonicDe novoframeshift deletionNM_001284363
NM_006852
NM_001284333
c.1148_1149del
c.1244_1245del
c.1310_1311del
p.H383fs
p.H415fs
p.H437fs
--Fu2022 E
TLK2     13708_p1chr17:
60679466-60679466
CTexonicDe novononsynonymous SNVNM_001284363
NM_006852
NM_001284333
c.C1688T
c.C1784T
c.C1850T
p.S563L
p.S595L
p.S617L
16.99-Fu2022 E
TLK2     AU4243302chr17:
60646650-60646650
GAintronicDe novo--Trost2022 G
Yuen2017 G
TLK2     B203003chr17:
60683580-60683580
ACexonicDe novononsynonymous SNVNM_001284363
NM_006852
NM_001284333
c.A1853C
c.A1949C
c.A2015C
p.Y618S
p.Y650S
p.Y672S
15.23-Fu2022 E
TLK2     ASC_121061chr17:
60678047-60678047
AGexonicDe novononsynonymous SNVNM_001284363
NM_006852
NM_001284333
c.A1490G
c.A1586G
c.A1652G
p.D497G
p.D529G
p.D551G
14.36-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
TLK2     AU043804chr17:
60634256-60634256
TGintronicDe novo--Trost2022 G
Yuen2017 G
TLK2     14122.p1chr17:
60663599-60663599
TTTGAGTGTCintronicDe novo--Satterstrom2020 E
TLK2     JASD_Fam0016chr17:
60655885-60655885
ACexonicDe novononsynonymous SNVNM_001284363
NM_006852
NM_001284333
c.A1140C
c.A1236C
c.A1302C
p.R380S
p.R412S
p.R434S
11.56-Takata2018 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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