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Results for "LTK"

Variant Events: 9

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
LTK     Lim2017:36050chr15:
41801298-41801298
AGexonicDe novononsynonymous SNVNM_001135685
NM_206961
NM_002344
c.T844C
c.T844C
c.T1027C
p.W282R
p.W282R
p.W343R
14.5-Lim2017 E
LTK     SP0062134chr15:
41799673-41799673
GAintronicDe novo--Fu2022 E
LTK     SP0103392chr15:
41797120-41797120
GAintronicDe novo-3.462E-5Fu2022 E
LTK     ASC_132758chr15:
41796311-41796311
CTexonicDe novosynonymous SNVNM_001135685
NM_206961
NM_002344
c.G2088A
c.G2295A
c.G2478A
p.E696E
p.E765E
p.E826E
--Fu2022 E
LTK     AU111Achr15:
41796800-41796800
CTexonicDe novononsynonymous SNVNM_001135685
NM_206961
NM_002344
c.G1769A
c.G1976A
c.G2159A
p.G590D
p.G659D
p.G720D
22.21.0E-4DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
LTK     36050chr15:
41801298-41801298
AGexonicDe novononsynonymous SNVNM_001135685
NM_206961
NM_002344
c.T844C
c.T844C
c.T1027C
p.W282R
p.W282R
p.W343R
14.5-Fu2022 E
LTK     14243.p1chr15:
41801298-41801298
AGexonicDe novononsynonymous SNVNM_001135685
NM_206961
NM_002344
c.T844C
c.T844C
c.T1027C
p.W282R
p.W282R
p.W343R
14.5-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
LTK     SP0017225chr15:
41804459-41804459
AGexonicDe novononsynonymous SNVNM_001135685
NM_002344
NM_206961
c.T364C
c.T364C
c.T364C
p.S122P
p.S122P
p.S122P
26.7-Fu2022 E
LTK     iHART2768chr15:
41799363-41799363
CCAexonicPaternalframeshift insertionNM_001135685
NM_206961
NM_002344
c.1171dupT
c.1287dupT
c.1470dupT
p.W391fs
p.G430fs
p.G491fs
--Ruzzo2019 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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