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Results for "ITK"

Variant Events: 10

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
ITK     1-0674-003chr5:
156619281-156619281
CTintronicDe novo--Yuen2017 G
ITK     2-1239-003chr5:
156679654-156679654
GAexonicDe novononsynonymous SNVNM_005546c.G1829Ap.R610H12.484.943E-5Jiang2013 G
Yuen2016 G
Yuen2017 G
ITK     AU097Achr5:
156649954-156649954
CTexonicDe novononsynonymous SNVNM_005546c.C577Tp.R193W12.851.648E-5DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
ITK     10C104984chr5:
156679654-156679654
GAexonicDe novononsynonymous SNVNM_005546c.G1829Ap.R610H12.484.943E-5Fu2022 E
Satterstrom2020 E
ITK     7-0251-003chr5:
156675900-156675900
GAexonicDe novosynonymous SNVNM_005546c.G1674Ap.P558P-8.241E-5Yuen2017 G
ITK     SP0079786chr5:
156635997-156635997
CTexonicDe novononsynonymous SNVNM_005546c.C236Tp.P79L24.71.664E-5Fu2022 E
ITK     DEASD_0371_001chr5:
156638263-156638263
GAintronicDe novo-2.473E-5Kosmicki2017 E
Satterstrom2020 E
ITK     2-1299-003chr5:
156612979-156612981
CTGCintronicDe novo--Yuen2017 G
ITK     1-0400-003chr5:
156644523-156644523
GTintronicDe novo--Yuen2016 G
Yuen2017 G
ITK     5-0095-003chr5:
156611067-156611067
GTintronicDe novo--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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