Variant Results

or

Results for "TEK"

Variant Events: 22

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

TEK

X3N7Y_01

chr9:
27160038-27160038

T

A

intronic

De novo

-

Trost2022 G

TEK

4-0062-003

chr9:
27205333-27205333

A

G

intronic

De novo

-

Trost2022 G

TEK

1-0187-004

chr9:
27149883-27149883

G

T

intronic

De novo

-

Trost2022 G

TEK

3-0029-000

chr9:
27152719-27152719

T

C

intronic

De novo

-

Trost2022 G

TEK

MSSNG00129-003

chr9:
27117781-27117781

C

T

intronic

De novo

-

Trost2022 G

TEK

1-1183-003

chr9:
27123316-27123316

C

G

intronic

De novo

-

Trost2022 G

TEK

13023.p1

chr9:
27192704-27192704

T

G

intronic

De novo

-

Turner2016 G

TEK

2-1174-006

chr9:
27127509-27127516

ATGGTATT

A

intronic

De novo

-

Yuen2017 G

TEK

EGAN00001101331

chr9:
27212807-27212807

A

G

exonic

De novo

nonsynonymous SNV

NM_001290078
NM_001290077
NM_000459

c.A2345G
c.A2660G
c.A2789G

p.N782S
p.N887S
p.N930S

23.2

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

TEK

AU3721302

chr9:
27203193-27203193

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TEK

1-0104-003

chr9:
27211414-27211417

TAGA

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TEK

SP0101199

chr9:
27192444-27192444

A

C

intronic

De novo

-

Fu2022 E

TEK

SP0005107

chr9:
27203115-27203115

A

C

exonic

De novo

nonsynonymous SNV

NM_001290078
NM_001290077
NM_000459

c.A1766C
c.A2078C
c.A2207C

p.Q589P
p.Q693P
p.Q736P

9.396

-

Fu2022 E

TEK

SP0036080

chr9:
27220007-27220007

A

C

intronic

De novo

-

Fu2022 E

TEK

3-0630-000

chr9:
27221670-27221674

CCTGA

C

intronic

De novo

-

Trost2022 G

TEK

SP0016689

chr9:
27217791-27217791

T

C

intronic

De novo

-

6.661E-5

Fu2022 E

TEK

1-0590-003

chr9:
27115928-27115932

CAGAG

CAG

intronic

De novo

-

Yuen2017 G

TEK

2-1729-003

chr9:
27120871-27120871

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TEK

2-1359-003

chr9:
27219090-27219090

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

TEK

2-1359-003

chr9:
27218225-27218225

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TEK

Codina-Sola2015:ASD_10

chr9:
27220143-27220143

T

TGTAA

exonic

Paternal

stopgain

NM_001290078
NM_001290077
NM_000459

c.2756_2757insGTAA
c.3071_3072insGTAA
c.3200_3201insGTAA

p.V919_Y920delinsVX
p.V1024_Y1025delinsVX
p.V1067_Y1068delinsVX

-

Codina-Sola2015 E

TEK

Mahjani2021:135

chr9:
27173276-27173276

G

T

exonic

stopgain

NM_001290078
NM_000459
NM_001290077

c.G505T
c.G817T
c.G817T

p.G169X
p.G273X
p.G273X

37.0

-

Mahjani2021 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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