Variant Results

or

Results for "NPVF"

Variant Events: 47

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

NPVF

2-0297-003

chr7:
25542166-25542166

T

A

intergenic

De novo

-

Yuen2017 G

NPVF

2-0297-003

chr7:
25518380-25518380

G

A

intergenic

De novo

-

Yuen2017 G

NPVF

2-0244-003

chr7:
25501331-25501331

A

C

intergenic

De novo

-

Yuen2017 G

NPVF

1-0906-003

chr7:
25441016-25441016

T

C

intergenic

De novo

-

Yuen2017 G

NPVF

1-0552-003

chr7:
25566463-25566463

T

A

intergenic

De novo

-

Yuen2017 G

NPVF

MSSNG00355-003

chr7:
25265658-25265658

A

T

intronic

De novo

-

Trost2022 G

NPVF

AU046706

chr7:
25385485-25385485

A

G

intergenic

De novo

-

Yuen2017 G

NPVF

AU3648301

chr7:
25861410-25861410

A

G

intergenic

De novo

-

Yuen2017 G

NPVF

1-0375-003

chr7:
25292184-25292185

GT

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

NPVF

1-0485-003

chr7:
25873093-25873093

C

T

intergenic

De novo

-

Yuen2017 G

NPVF

2-1241-003

chr7:
25570994-25570994

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

NPVF

AU1640302

chr7:
25486598-25486614

AAATAATAATAATAATA

AAATAATAATA

intergenic

De novo

-

Yuen2017 G

NPVF

2-1452-003

chr7:
25828926-25828926

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

NPVF

AU075803

chr7:
25733213-25733213

T

A

intergenic

De novo

-

Yuen2017 G

NPVF

AU074403

chr7:
25825796-25825796

G

C

intergenic

De novo

-

Yuen2017 G

NPVF

2-1363-003

chr7:
25392215-25392215

C

T

intergenic

De novo

-

Yuen2017 G

NPVF

13023.p1

chr7:
25315227-25315227

G

A

intergenic

De novo

-

Turner2016 G

NPVF

2-1437-003

chr7:
25330395-25330408

GCTGAGTAAAGTGA

G

intergenic

De novo

-

Yuen2017 G

NPVF

2-1451-004

chr7:
25412582-25412582

C

T

intergenic

De novo

-

Yuen2017 G

NPVF

AU2156303

chr7:
25929415-25929415

T

C

intergenic

De novo

-

Yuen2017 G

NPVF

AU069603

chr7:
25679420-25679420

A

C

intergenic

De novo

-

Yuen2017 G

NPVF

AU4103301

chr7:
25643470-25643470

A

C

intergenic

De novo

-

Yuen2017 G

NPVF

2-1380-003

chr7:
25750771-25750771

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

NPVF

2-1529-003

chr7:
25360104-25360104

G

T

intergenic

De novo

-

Yuen2017 G

NPVF

7-0023-003

chr7:
25575558-25575558

T

C

intergenic

De novo

-

Yuen2017 G

NPVF

7-0023-003

chr7:
25788055-25788055

T

C

intergenic

De novo

-

Yuen2017 G

NPVF

AU3765303

chr7:
25639816-25639816

A

G

intergenic

De novo

-

Yuen2017 G

NPVF

1-0271-004

chr7:
25940476-25940476

G

A

intergenic

De novo

-

Yuen2017 G

NPVF

AU4103301

chr7:
25643465-25643465

G

A

intergenic

De novo

-

Yuen2017 G

NPVF

1-0292-005

chr7:
25809348-25809348

G

GA

intergenic

De novo

-

Yuen2017 G

NPVF

1-0972-003

chr7:
25515994-25515994

G

C

intergenic

De novo

-

Yuen2017 G

NPVF

AU3951302

chr7:
25717181-25717181

G

A

intergenic

De novo

-

Yuen2017 G

NPVF

1-0458-005

chr7:
25529076-25529076

G

A

intergenic

De novo

-

Yuen2017 G

NPVF

2-0309-004

chr7:
25953633-25953633

C

T

intergenic

De novo

-

Yuen2017 G

NPVF

2-1605-004

chr7:
25811792-25811803

CCAGGGTTCAAG

C

intergenic

De novo

-

Yuen2017 G

NPVF

A8

chr7:
25480074-25480074

C

T

intergenic

De novo

-

Wu2018 G

NPVF

1-0534-003

chr7:
25519338-25519338

C

T

intergenic

De novo

-

Yuen2017 G

NPVF

1-0359-003

chr7:
25356140-25356143

TGCG

TG

intergenic

De novo

-

Yuen2017 G

NPVF

2-0304-004

chr7:
25292952-25292952

G

A

intergenic

De novo

-

Yuen2017 G

NPVF

7-0103-003

chr7:
25984169-25984169

A

G

intergenic

De novo

-

Yuen2017 G

NPVF

2-1391-003

chr7:
25498831-25498831

G

A

intergenic

De novo

-

Yuen2017 G

NPVF

2-1152-003

chr7:
25655935-25655935

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

NPVF

AU3636302

chr7:
25558427-25558427

G

C

intergenic

De novo

-

Yuen2017 G

NPVF

1-0022-004

chr7:
25535289-25535289

G

A

intergenic

De novo

-

Yuen2017 G

NPVF

1-0595-005

chr7:
25524024-25524024

G

A

intergenic

De novo

-

Yuen2017 G

NPVF

2-1514-003

chr7:
25356140-25356143

TGCG

TG

intergenic

De novo

-

Yuen2017 G

NPVF

1-0022-003

chr7:
25535289-25535289

G

A

intergenic

De novo

-

Yuen2016 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
	More