Variant Results

or

or

Results for "NBPF8"

Variant Events: 30

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

NBPF8

AU049304

chr1:
147999383-147999383

A

T

intronic

De novo

-

-

Yuen2017 G

NBPF8

2-0320-003

chr1:
147999403-147999403

C

T

intronic

De novo

-

-

Yuen2017 G

NBPF8

AU031404

chr1:
148018617-148018617

C

G

intronic

De novo

-

-

Yuen2017 G

NBPF8

AU031404

chr1:
148187497-148187497

C

T

intronic

De novo

-

-

Yuen2017 G

NBPF8

1-0669-003

chr1:
147723974-147723974

A

G

intronic

De novo

-

-

Yuen2017 G

NBPF8

G01_GEA508HI

chr1:
148015879-148015879

A

G

intronic

De novo

-

-

Fu2022 E

NBPF8

004-05-102519

chr1:
148024885-148024885

T

C

exonic

De novo

nonsynonymous SNV

NM_001037501

c.A1132G

p.T378A

9.832

-

Fu2022 E

NBPF8

AU030104

chr1:
148019295-148019302

ATATATTT

AT

intronic

De novo

-

-

Yuen2017 G

NBPF8

AU2485305

chr1:
148009517-148009517

C

A

intronic

De novo

2.044

Yuen2017 G

NBPF8

7-0067-003

chr1:
148004975-148004975

A

T

intronic

De novo

-

-

Yuen2017 G

NBPF8

7-0067-003

chr1:
148005046-148005046

A

G

intronic

De novo

-

-

Yuen2017 G

NBPF8

5131021315504-C

chr1:
148024602-148024603

CT

C

intronic

De novo

-

-

Fu2022 E

NBPF8

AU4149301

chr1:
148004975-148004975

A

T

intronic

De novo

-

-

Yuen2017 G

NBPF8

AU2485305

chr1:
148010013-148010013

T

A

intronic

De novo

-

-

Yuen2017 G

NBPF8

AU2485305

chr1:
148010017-148010017

T

C

intronic

De novo

-

-

Yuen2017 G

NBPF8

AU4347301

chr1:
148245727-148245735

TTATATATA

TTATATATATA

intronic

De novo

-

-

Yuen2017 G

NBPF8

08C78517

chr1:
148017617-148017626

ATCCCAGGAC

A

exonic

De novo

nonframeshift deletion

NM_001037501

c.1677_1685del

p.559_562del

-

-

DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

NBPF8

2-1722-003

chr1:
148004945-148004945

G

C

intronic

De novo

-

-

Yuen2017 G

NBPF8

7-0183-003

chr1:
148009153-148009153

G

A

intronic

De novo

-

-

Yuen2017 G

NBPF8

2-1444-003

chr1:
147808144-147808144

T

C

intronic

De novo

-

-

Yuen2017 G

NBPF8

2-1444-003

chr1:
147808131-147808131

T

C

intronic

De novo

-

-

Yuen2017 G

NBPF8

AU4347301

chr1:
148243189-148243194

TTTGTT

TTT

intronic

De novo

-

-

Yuen2017 G

NBPF8

AU3885304

chr1:
148233392-148233392

T

C

intronic

De novo

-

-

Yuen2017 G

NBPF8

7-0253-004

chr1:
148008682-148008682

A

T

intronic

De novo

-

-

Yuen2017 G

NBPF8

5-0083-003

chr1:
147764054-147764054

G

C

intronic

De novo

-

-

Yuen2017 G

NBPF8

1-0554-003

chr1:
147824224-147824224

C

T

intronic

De novo

-

-

Yuen2017 G

NBPF8

AU4027306

chr1:
148239748-148239748

G

A

intronic

De novo

-

-

Yuen2017 G

NBPF8

AU3371301

chr1:
148010017-148010017

T

C

intronic

De novo

-

-

Yuen2017 G

NBPF8

2-1422-003

chr1:
147962875-147962875

A

C

intronic

De novo

-

-

Yuen2017 G

NBPF8

AU3371303

chr1:
148010017-148010017

T

C

intronic

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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