Variant Results

or

or

Results for "TMEM260"

Variant Events: 25

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

TMEM260

1-0401-003

chr14:
57206457-57206457

A

G

intergenic

De novo

-

-

Yuen2017 G

TMEM260

iHART2666

chr14:
57084016-57084016

G

T

splicing

Paternal

splicing

15.45

Ruzzo2019 G

TMEM260

iHART2023

chr14:
57075927-57075927

G

A

exonic

Paternal

stopgain

NM_017799

c.G740A

p.W247X

38.0

-

Ruzzo2019 G

TMEM260

3-0439-000

chr14:
57110990-57110990

C

G

intronic

De novo

-

-

Yuen2016 G

TMEM260

iHART2665

chr14:
57084016-57084016

G

T

splicing

Paternal

splicing

15.45

Ruzzo2019 G

TMEM260

mAGRE4995

chr14:
57114172-57114177

TAAGAA

T

exonic

Maternal

frameshift deletion

NM_017799

c.2082_2086del

p.L694fs

-

Cirnigliaro2023 G

TMEM260

mAGRE4994

chr14:
57114172-57114177

TAAGAA

T

exonic

Maternal

frameshift deletion

NM_017799

c.2082_2086del

p.L694fs

-

Cirnigliaro2023 G

TMEM260

mAGRE4638

chr14:
57099807-57099808

GT

G

exonic

Paternal

frameshift deletion

NM_017799

c.1643delT

p.V548fs

-

-

Cirnigliaro2023 G

TMEM260

mAGRE2666

chr14:
57084016-57084016

G

T

splicing

Paternal

splicing

15.45

Cirnigliaro2023 G

TMEM260

mAGRE2665

chr14:
57084016-57084016

G

T

splicing

Paternal

splicing

15.45

Cirnigliaro2023 G

TMEM260

AU2075301

chr14:
57076225-57076225

A

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

TMEM260

SP0010571

chr14:
57103217-57103217

C

T

intronic

De novo

-

-

Fu2022 E

TMEM260

1-0028-003

chr14:
57067271-57067271

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

TMEM260

AU066818

chr14:
57150416-57150416

C

T

intergenic

De novo

-

-

Yuen2017 G

TMEM260

AU3371302

chr14:
57172581-57172581

G

A

intergenic

De novo

-

-

Yuen2017 G

TMEM260

11002.p1

chr14:
57240225-57240225

A

G

intergenic

De novo

-

-

Turner2016 G

TMEM260

11002.p1

chr14:
57240251-57240251

T

A

intergenic

De novo

-

-

Turner2016 G

TMEM260

AU2186301

chr14:
57061988-57061988

C

A

intronic

De novo

-

-

Trost2022 G

TMEM260

7-0105-003

chr14:
57085253-57085253

A

C

intronic

De novo

-

-

Trost2022 G

TMEM260

5-5203-003

chr14:
57052962-57052962

A

G

intronic

De novo

-

-

Trost2022 G

TMEM260

2-1592-003

chr14:
57244327-57244327

C

G

intergenic

De novo

-

-

Yuen2017 G

TMEM260

SP0017489

chr14:
57113904-57113904

G

A

intronic

De novo

-

-

Trost2022 G

TMEM260

SP0112619

chr14:
57114172-57114177

TAAGAA

T

exonic

frameshift deletion

NM_017799

c.2082_2086del

p.L694fs

-

Zhou2022 GE

TMEM260

14-600

chr14:
57089462-57089462

T

A

intronic

De novo

-

-

Trost2022 G

TMEM260

MSSNG00127-003

chr14:
57102720-57102720

G

A

intronic

De novo

-

-

Trost2022 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 notes	View
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