Variant Results

or

Results for "NBPF25P"

Variant Events: 71

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

NBPF25P

2-0320-003

chr1:
148532740-148532740

G

C

ncRNA_intronic

De novo

-

Yuen2017 G

NBPF25P

2-1206-003

chr1:
145367280-145367280

C

A

ncRNA_intronic

De novo

-

Yuen2017 G

NBPF25P

2-1173-003

chr1:
149245382-149245382

T

C

intergenic

De novo

-

Yuen2017 G

NBPF25P

2-0158-003

chr1:
148607702-148607702

C

T

ncRNA_intronic

De novo

-

Yuen2017 G

NBPF25P

1-0075-003

chr1:
148895032-148895032

A

G

ncRNA_intronic

De novo

-

Yuen2017 G

NBPF25P

1-0075-003

chr1:
148673077-148673077

A

G

ncRNA_intronic

De novo

-

Yuen2017 G

NBPF25P

AU4286302

chr1:
148891196-148891196

T

G

ncRNA_intronic

De novo

-

Yuen2017 G

NBPF25P

AU3808304

chr1:
145359424-145359424

T

C

ncRNA_intronic

De novo

-

Yuen2017 G

NBPF25P

1-1020-003A

chr1:
146402238-146402238

A

G

ncRNA_intronic

De novo

-

Trost2022 G

NBPF25P

MSSNG00024-003A

chr1:
146384274-146384274

G

T

ncRNA_intronic

De novo

-

Trost2022 G

NBPF25P

MT_56.3

chr1:
146405275-146405275

C

T

ncRNA_intronic

De novo

-

Trost2022 G

NBPF25P

2-1455-003

chr1:
148901531-148901531

G

A

ncRNA_intronic

De novo

-

Yuen2017 G

NBPF25P

AU3175302

chr1:
149223406-149223406

G

A

intergenic

De novo

-

Yuen2017 G

NBPF25P

1-0571-003

chr1:
148843599-148843599

G

A

ncRNA_intronic

De novo

-

Yuen2017 G

NBPF25P

2-1265-003

chr1:
145298084-145298084

G

C

ncRNA_intronic

De novo

-

Yuen2017 G

NBPF25P

AU4122301

chr1:
149281572-149281572

G

T

intergenic

De novo

-

Yuen2017 G

NBPF25P

2-0098-003

chr1:
149249810-149249810

A

G

intergenic

De novo

-

Yuen2017 G

NBPF25P

1-1024-003

chr1:
148346411-148346415

CTAAA

C

ncRNA_intronic

De novo

-

Trost2022 G

NBPF25P

AU3811305

chr1:
148877425-148877425

C

A

ncRNA_intronic

De novo

-

Yuen2017 G

NBPF25P

2-1725-003

chr1:
149277589-149277589

C

T

intergenic

De novo

-

Yuen2017 G

NBPF25P

2-1183-003

chr1:
145948209-145948209

C

A

ncRNA_intronic

De novo

-

Yuen2017 G

NBPF25P

AU005213

chr1:
149063245-149063245

A

G

ncRNA_intronic

De novo

-

Yuen2017 G

NBPF25P

SP0045927

chr1:
146240470-146240470

T

G

ncRNA_intronic

De novo

-

Fu2022 E

NBPF25P

2-1436-003

chr1:
145297101-145297101

G

T

ncRNA_intronic

De novo

-

Yuen2017 G

NBPF25P

2-1629-003

chr1:
148562054-148562054

C

A

ncRNA_intronic

De novo

-

Yuen2017 G

NBPF25P

2-1689-003

chr1:
149093905-149093905

C

T

ncRNA_intronic

De novo

-

Yuen2017 G

NBPF25P

5-0041-003

chr1:
148663844-148663844

C

A

ncRNA_intronic

De novo

-

Yuen2017 G

NBPF25P

AU3729303

chr1:
149110360-149110360

G

A

upstream

De novo

-

Yuen2017 G

NBPF25P

AU3729303

chr1:
149237821-149237821

G

A

intergenic

De novo

-

Yuen2017 G

NBPF25P

AU1640302

chr1:
149016576-149016576

A

G

ncRNA_intronic

De novo

-

Yuen2017 G

NBPF25P

3-0307-000

chr1:
148565881-148565881

C

G

ncRNA_intronic

De novo

-

Yuen2017 G

NBPF25P

3-0447-000

chr1:
149028388-149028388

C

G

ncRNA_intronic

De novo

-

Yuen2017 G

NBPF25P

7-0032-003

chr1:
148888475-148888475

G

A

ncRNA_intronic

De novo

-

Yuen2017 G

NBPF25P

AU2292301

chr1:
145303557-145303557

G

T

ncRNA_intronic

De novo

-

Yuen2017 G

NBPF25P

11129.p1

chr1:
148252122-148252122

G

C

ncRNA_intronic

De novo

-

5.049E-5

Krumm2015 E

NBPF25P

AU3125301

chr1:
149224206-149224206

C

T

intergenic

De novo

-

Yuen2017 G

NBPF25P

1-0453-003

chr1:
149162856-149162862

GAAAAAA

GAAAAAAA

intergenic

De novo

-

Yuen2017 G

NBPF25P

AU3729301

chr1:
148868063-148868063

A

G

ncRNA_intronic

De novo

-

Yuen2017 G

NBPF25P

1-0604-003

chr1:
149256515-149256516

CA

C

intergenic

De novo

-

Yuen2017 G

NBPF25P

2-0043-003

chr1:
148919537-148919537

T

G

ncRNA_intronic

De novo

-

Yuen2017 G

NBPF25P

AU3729301

chr1:
149110360-149110360

G

A

upstream

De novo

-

Yuen2017 G

NBPF25P

AU071703

chr1:
148907185-148907185

T

C

ncRNA_intronic

De novo

-

Yuen2017 G

NBPF25P

AU3729301

chr1:
149224204-149224204

C

T

intergenic

De novo

-

Yuen2017 G

NBPF25P

AU3768302

chr1:
148866252-148866252

T

C

ncRNA_intronic

De novo

-

Yuen2017 G

NBPF25P

AU3861303

chr1:
146019749-146019749

T

G

ncRNA_intronic

De novo

-

Yuen2017 G

NBPF25P

AU046703

chr1:
148888399-148888399

C

T

ncRNA_intronic

De novo

-

Yuen2017 G

NBPF25P

AU3703302

chr1:
146396506-146396506

G

A

ncRNA_intronic

De novo

-

Yuen2017 G

NBPF25P

ASC_CA_131_A

chr1:
148306138-148306138

T

A

ncRNA_intronic

De novo

4.538

-

Fu2022 E

NBPF25P

AU4235303

chr1:
146005741-146005741

C

T

ncRNA_intronic

De novo

-

Yuen2017 G

NBPF25P

2-1137-003

chr1:
145298821-145298821

G

T

ncRNA_intronic

De novo

-

Yuen2017 G

NBPF25P

1-0512-003

chr1:
148893282-148893282

C

A

ncRNA_intronic

De novo

-

Yuen2017 G

NBPF25P

AU3729301

chr1:
149237821-149237821

G

A

intergenic

De novo

-

Yuen2017 G

NBPF25P

AU3760301

chr1:
148871298-148871298

C

T

ncRNA_intronic

De novo

-

Yuen2017 G

NBPF25P

SSC09185

chr1:
146419338-146419338

T

G

ncRNA_intronic

De novo

-

Fu2022 E

NBPF25P

1-0806-003

chr1:
148668672-148668672

T

A

ncRNA_intronic

De novo

-

Yuen2017 G

NBPF25P

AU0452304

chr1:
145298766-145298766

C

T

ncRNA_intronic

De novo

-

Yuen2017 G

NBPF25P

AU2035302

chr1:
149059785-149059785

C

T

ncRNA_intronic

De novo

-

Yuen2017 G

NBPF25P

AU2437302

chr1:
148633095-148633098

GAAA

GAA

ncRNA_intronic

De novo

-

Yuen2017 G

NBPF25P

1-0512-003

chr1:
149161398-149161398

C

T

intergenic

De novo

-

Yuen2017 G

NBPF25P

7-0140-003

chr1:
148926730-148926730

G

A

ncRNA_intronic

De novo

-

Yuen2017 G

NBPF25P

AU4314302

chr1:
148570154-148570154

T

G

ncRNA_intronic

De novo

-

Yuen2017 G

NBPF25P

13795.p1

chr1:
146419338-146419338

T

G

ncRNA_intronic

-

Zhou2022 GE

NBPF25P

1-0736-003

chr1:
149281519-149281519

C

T

intergenic

De novo

-

Yuen2017 G

NBPF25P

2-1737-003

chr1:
148789089-148789089

C

T

ncRNA_intronic

De novo

-

Yuen2017 G

NBPF25P

AU2292302

chr1:
145303557-145303557

G

T

ncRNA_intronic

De novo

-

Yuen2017 G

NBPF25P

AU2410302

chr1:
149223406-149223406

G

A

intergenic

De novo

-

Yuen2017 G

NBPF25P

AU2035301

chr1:
149059785-149059785

C

T

ncRNA_intronic

De novo

-

Yuen2017 G

NBPF25P

AU2793301

chr1:
149157037-149157037

G

A

intergenic

De novo

-

Yuen2017 G

NBPF25P

AU056005

chr1:
149271380-149271380

G

C

intergenic

De novo

-

Yuen2017 G

NBPF25P

AU4186302

chr1:
145309494-145309495

AT

ATT

ncRNA_intronic

De novo

-

Yuen2017 G

NBPF25P

AU3399303

chr1:
149258464-149258464

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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