Variant Results

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Results for "TYK2"

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

TYK2

200675647@1082034423

chr19:
10464269-10464269

C

T

exonic

De novo

nonsynonymous SNV

NM_003331

c.G2962A

p.D988N

36.0

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

TYK2

2-1466-003

chr19:
10495677-10495677

G

C

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

TYK2

657-05-104554

chr19:
10488969-10488969

G

A

exonic

De novo

synonymous SNV

NM_003331

c.C114T

p.G38G

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

TYK2

7-0032-003

chr19:
10491147-10491147

C

T

UTR5

De novo

-

-

Yuen2017 G

TYK2

AU3787303

chr19:
10479275-10479275

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

TYK2

iHART2440

chr19:
10476311-10476312

AC

A

exonic

Paternal

frameshift deletion

NM_003331

c.892delG

p.V298fs

-

-

Ruzzo2019 G

TYK2

mAGRE2440

chr19:
10476311-10476312

AC

A

exonic

Paternal

frameshift deletion

NM_003331

c.892delG

p.V298fs

-

-

Cirnigliaro2023 G

TYK2

Chen2017:98

chr19:
10464269-10464269

C

T

exonic

De novo

nonsynonymous SNV

NM_003331

c.G2962A

p.D988N

36.0

-

Chen2017 E

TYK2

2-1436-003

chr19:
10486687-10486687

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

TYK2

SP0134547

chr19:
10465249-10465249

G

A

exonic

De novo

nonsynonymous SNV

NM_003331

c.C2654T

p.P885L

12.18

Fu2022 E
Trost2022 G
Zhou2022 GE

TYK2

A23

chr19:
10480441-10480441

C

T

intronic

De novo

-

-

Wu2018 G

TYK2

SP0091389

chr19:
10472833-10472833

C

T

exonic

De novo

nonsynonymous SNV

NM_003331

c.G1694A

p.R565Q

15.5

-

Fu2022 E
Trost2022 G
Zhou2022 GE

TYK2

12568.p1

chr19:
10462683-10462683

C

G

intronic

De novo

-

-

Turner2016 G

TYK2

SP0147414

chr19:
10463685-10463685

G

A

exonic

De novo

synonymous SNV

NM_003331

c.C3117T

p.I1039I

-

-

Trost2022 G

TYK2

200675647_1082034423

chr19:
10464269-10464269

C

T

exonic

De novo

nonsynonymous SNV

NM_003331

c.G2962A

p.D988N

36.0

-

Fu2022 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 notes	View
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