Variant Results

or

Results for "ITK"

Variant Events: 15

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

1-0674-003

chr5:
156619281-156619281

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ITK

2-1239-003

chr5:
156679654-156679654

G

A

exonic

De novo

nonsynonymous SNV

NM_005546

c.G1829A

p.R610H

12.48

4.943E-5

Jiang2013 G
Yuen2016 G
Yuen2017 G
Zhou2022 GE

ITK

AU097A

chr5:
156649954-156649954

C

T

exonic

De novo

nonsynonymous SNV

NM_005546

c.C577T

p.R193W

12.85

1.648E-5

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ITK

10C104984

chr5:
156679654-156679654

G

A

exonic

De novo

nonsynonymous SNV

NM_005546

c.G1829A

p.R610H

12.48

4.943E-5

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ITK

7-0251-003

chr5:
156675900-156675900

G

A

exonic

De novo

synonymous SNV

NM_005546

c.G1674A

p.P558P

-

8.241E-5

Trost2022 G
Yuen2017 G
Zhou2022 GE

ITK

SP0079786

chr5:
156635997-156635997

C

T

exonic

De novo

nonsynonymous SNV

NM_005546

c.C236T

p.P79L

24.7

1.664E-5

Fu2022 E
Zhou2022 GE

ITK

DEASD_0371_001

chr5:
156638263-156638263

G

A

intronic

De novo

-

2.473E-5

Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

ITK

2-1299-003

chr5:
156612979-156612981

CTG

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ITK

1-0400-003

chr5:
156644523-156644523

G

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ITK

MT_99.3

chr5:
156652675-156652675

G

A

intronic

De novo

-

Trost2022 G

ITK

1-0903-003

chr5:
156666164-156666164

T

A

intronic

De novo

-

Trost2022 G

ITK

3-0199-000

chr5:
156629758-156629758

G

A

intronic

De novo

-

Trost2022 G

ITK

5-0095-003

chr5:
156611067-156611067

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ITK

MSSNG00040-004

chr5:
156631237-156631237

G

C

intronic

De novo

-

Trost2022 G

ITK

1-0901-003

chr5:
156622368-156622376

TTGCCTCCG

T

intronic

De novo

-

Trost2022 G

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 notes	View
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