Variant Results

or

or

Results for "TMEM266"

Variant Events: 18

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

TMEM266

AU1909304

chr15:
76427106-76427106

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

TMEM266

1-0554-003

chr15:
76385057-76385057

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

TMEM266

1-0627-006

chr15:
76433817-76433817

T

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

TMEM266

7-0240-003

chr15:
76488565-76488565

G

T

intronic

De novo

-

-

Trost2022 G

TMEM266

7-0249-004

chr15:
76361039-76361039

A

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

TMEM266

AU3636302

chr15:
76432936-76432936

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

TMEM266

2-1491-003

chr15:
76452106-76452106

C

G

intronic

De novo

-

-

Trost2022 G

TMEM266

2-1371-003

chr15:
76436759-76436759

C

T

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

TMEM266

7-0486-003

chr15:
76487591-76487591

T

C

intronic

De novo

-

-

Trost2022 G

TMEM266

MT_61.3

chr15:
76400174-76400177

ACTG

A

intronic

De novo

-

-

Trost2022 G

TMEM266

AU2320301

chr15:
76414543-76414543

C

T

intronic

De novo

-

-

Trost2022 G

TMEM266

MSSNG00352-003

chr15:
76367985-76367985

C

G

intronic

De novo

-

-

Trost2022 G

TMEM266

SP0044376

chr15:
76462166-76462166

C

T

exonic

De novo

nonsynonymous SNV

NM_152335

c.C466T

p.R156W

7.329

-

Fu2022 E
Trost2022 G
Zhou2022 GE

TMEM266

REACH000655

chr15:
76484470-76484470

C

A

exonic

De novo

nonsynonymous SNV

NM_152335

c.C930A

p.S310R

13.92

-

Trost2022 G
Zhou2022 GE

TMEM266

2-1505-003

chr15:
76439052-76439052

G

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

TMEM266

3-0072-000

chr15:
76496430-76496430

C

T

exonic

De novo

nonsynonymous SNV

NM_152335

c.C1370T

p.A457V

16.09

-

Trost2022 G
Zhou2022 GE

TMEM266

Codina-Sola2015:ASD_32

chr15:
76496219-76496219

G

T

exonic

Paternal

stopgain

NM_152335

c.G1159T

p.E387X

25.8

-

Codina-Sola2015 E

TMEM266

200675573@1082035017

chr15:
76496335-76496335

T

C

exonic

De novo

synonymous SNV

NM_152335

c.T1275C

p.S425S

-

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

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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