Variant Results

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Results for "NPAP1"

Variant Events: 16

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

NPAP1

11418.p1

chr15:
24922551-24922551

A

C

exonic

De novo

synonymous SNV

NM_018958

c.A1537C

p.R513R

-

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

NPAP1

mAGRE1327

chr15:
24923265-24923265

C

CAG

exonic

Paternal

frameshift insertion

NM_018958

c.2251_2252insAG

p.Q751fs

-

-

Cirnigliaro2023 G

NPAP1

7-0222-003

chr15:
24981439-24981439

C

T

intergenic

De novo

-

-

Yuen2017 G

NPAP1

SSC00404

chr15:
24922551-24922551

A

C

exonic

De novo

synonymous SNV

NM_018958

c.A1537C

p.R513R

-

-

Lim2017 E
Trost2022 G

NPAP1

1-0627-005

chr15:
24948617-24948617

A

G

intergenic

De novo

-

-

Yuen2017 G

NPAP1

1-0303-003

chr15:
24962235-24962235

A

AATGAT

intergenic

De novo

-

-

Yuen2017 G

NPAP1

3-0447-000

chr15:
24978940-24978940

A

G

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

NPAP1

1-0046-003

chr15:
24995669-24995669

G

A

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

NPAP1

2-1184-003

chr15:
24932573-24932573

A

G

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

NPAP1

SP0116178

chr15:
24921733-24921733

C

G

exonic

De novo

nonsynonymous SNV

NM_018958

c.C719G

p.P240R

10.82

-

Trost2022 G
Zhou2022 GE

NPAP1

3-0391-000

chr15:
25047073-25047073

A

C

intergenic

De novo

-

-

Yuen2017 G

NPAP1

12680.p1

chr15:
24920134-24920134

C

T

upstream

De novo

-

-

Turner2016 G

NPAP1

1-0203-004

chr15:
25049420-25049420

T

C

intergenic

De novo

-

-

Yuen2017 G

NPAP1

AU4231301

chr15:
24930480-24930480

C

A

intergenic

De novo

-

-

Yuen2017 G

NPAP1

iHART1327

chr15:
24923265-24923265

C

CAG

exonic

Paternal

frameshift insertion

NM_018958

c.2251_2252insAG

p.Q751fs

-

-

Ruzzo2019 G

NPAP1

7-0024-003

chr15:
24919949-24919949

C

A

upstream

De novo

-

-

Trost2022 G
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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