or
or
Exact

Results for "TLK2"

Variant Events: 16

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     7-0256-003chr17:
60692013-60692013
GAUTR3De novo--Yuen2017 G
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
--Satterstrom2020 E
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
Wilfert2021 G
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
TLK2     07C66440chr17:
60657466-60657466
CGintronicDe novo--Satterstrom2020 E
TLK2     08C77167chr17:
60650729-60650729
GGTsplicingDe novosplicing--Satterstrom2020 E
TLK2     2-1178-003chr17:
60636751-60636751
TAintronicDe novo--Yuen2017 G
TLK2     AU3727303chr17:
60647505-60647505
TCintronicDe novo--Yuen2017 G
TLK2     2-1406-003 Complex Event; expand row to view variants  De novo--Yuen2016 G
Yuen2017 G
TLK2     2-1205-003chr17:
60561905-60561905
CTintronicDe novo--Yuen2017 G
TLK2     AU3806304chr17:
60592731-60592731
GAintronicDe novo--Yuen2017 G
TLK2     AU4243302chr17:
60646650-60646650
GAintronicDe novo--Yuen2017 G
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-Satterstrom2020 E
TLK2     AU043804chr17:
60634256-60634256
TGintronicDe novo--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

, -

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
More