Variant Results

or

Results for "MTPN"

Variant Events: 36

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

MTPN

AU031004

chr7:
135830832-135830832

T

C

intergenic

De novo

-

Yuen2017 G

MTPN

2-1486-003

chr7:
136247221-136247221

G

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

MTPN

1-0394-003

chr7:
135883715-135883715

G

A

intergenic

De novo

-

Yuen2017 G

MTPN

1-0563-003

chr7:
136259303-136259303

T

TTAA

intergenic

De novo

-

Yuen2017 G

MTPN

2-1436-003

chr7:
136092794-136092794

A

C

intergenic

De novo

-

Yuen2017 G

MTPN

1-0835-003

chr7:
135866467-135866467

C

T

intergenic

De novo

-

Yuen2017 G

MTPN

AU3451301

chr7:
135958000-135958000

A

G

intergenic

De novo

-

Yuen2017 G

MTPN

1-0279-004

chr7:
135848787-135848787

G

T

intergenic

De novo

-

Yuen2017 G

MTPN

5-0061-003

chr7:
136178811-136178811

C

CGGGCGCGG

intergenic

De novo

-

Yuen2017 G

MTPN

1-0935-003

chr7:
135709162-135709165

TAAA

TAA

intergenic

De novo

-

Yuen2017 G

MTPN

1-0973-003

chr7:
136299354-136299354

C

T

intergenic

De novo

-

Yuen2017 G

MTPN

AU3517302

chr7:
135676633-135676633

C

T

intergenic

De novo

-

Yuen2017 G

MTPN

2-1452-003

chr7:
136284394-136284394

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

MTPN

AU079605

chr7:
136514857-136514857

T

A

intergenic

De novo

-

Yuen2017 G

MTPN

2-1166-003

chr7:
136377861-136377861

T

G

intergenic

De novo

-

Yuen2016 G

MTPN

2-0295-004

chr7:
136114082-136114082

A

G

intergenic

De novo

-

Yuen2017 G

MTPN

1-0986-003

chr7:
136542709-136542709

G

A

intergenic

De novo

-

Yuen2017 G

MTPN

AU2156303

chr7:
135744289-135744289

G

A

intergenic

De novo

-

Yuen2017 G

MTPN

AU2139305

chr7:
135968812-135968812

T

C

intergenic

De novo

-

Yuen2017 G

MTPN

5-0116-003

chr7:
136117635-136117635

A

G

intergenic

De novo

-

Yuen2017 G

MTPN

2-0210-005

chr7:
136387879-136387879

C

A

intergenic

De novo

-

Yuen2017 G

MTPN

7-0143-003

chr7:
136255531-136255531

C

T

intergenic

De novo

-

Yuen2017 G

MTPN

AU4394302

chr7:
136527498-136527498

T

C

intergenic

De novo

-

Yuen2017 G

MTPN

1-0025-006

chr7:
135752647-135752647

G

T

intergenic

De novo

-

Yuen2017 G

MTPN

7-0254-003

chr7:
136524504-136524504

A

G

intergenic

De novo

-

Yuen2017 G

MTPN

14482.p1

chr7:
135729491-135729491

C

T

intergenic

De novo

-

Turner2016 G

MTPN

1-0563-004

chr7:
136259303-136259303

T

TTAA

intergenic

De novo

-

Yuen2017 G

MTPN

13964.p1

chr7:
136181558-136181558

A

G

intergenic

De novo

-

Turner2016 G

MTPN

2-0286-004

chr7:
136081442-136081442

C

A

intergenic

De novo

-

Yuen2017 G

MTPN

AU3911301

chr7:
135774291-135774291

C

T

intergenic

De novo

-

Yuen2017 G

MTPN

AU2109302

chr7:
135902309-135902309

A

G

intergenic

De novo

-

Yuen2017 G

MTPN

1-0075-003

chr7:
135938066-135938066

T

A

intergenic

De novo

-

Yuen2017 G

MTPN

AU3808304

chr7:
136351054-136351054

A

G

intergenic

De novo

-

Yuen2017 G

MTPN

7-0222-003

chr7:
135944181-135944181

C

T

intergenic

De novo

-

Yuen2017 G

MTPN

2-1422-003

chr7:
136373934-136373934

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

MTPN

2-1292-004

chr7:
135999191-135999191

C

T

intergenic

De novo

-

Yuen2017 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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