Variant Results

or

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Results for "ENPP1"

Variant Events: 13

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

ENPP1

1-0175-003

chr6:
132259484-132259484

G

A

intergenic

De novo

-

-

Yuen2017 G

ENPP1

AU034903

chr6:
132210079-132210079

G

A

intronic

De novo

-

-

Yuen2017 G

ENPP1

AU066404

chr6:
132128989-132128989

G

C

upstream

De novo

-

-

Yuen2017 G

ENPP1

2-1185-003

chr6:
132232823-132232823

G

C

intergenic

De novo

-

-

Yuen2017 G

ENPP1

ASD056

chr6:
132185700-132185703

TAAA

T

exonic

De novo

nonframeshift deletion

NM_006208

c.1081_1083del

p.361_361del

-

-

Tran2020 E
Wu2019 E

ENPP1

1-0175-004

chr6:
132259484-132259484

G

A

intergenic

De novo

-

-

Yuen2017 G

ENPP1

3-0437-000

chr6:
132246949-132246949

A

C

intergenic

De novo

-

-

Yuen2016 G

ENPP1

AU1640302

chr6:
132206394-132206394

T

C

intronic

De novo

-

-

Yuen2017 G

ENPP1

SP0126236

chr6:
132194118-132194118

G

A

exonic

De novo

nonsynonymous SNV

NM_006208

c.G1493A

p.R498H

24.1

-

Fu2022 E

ENPP1

2-1107-003

chr6:
132249110-132249110

C

T

intergenic

De novo

-

-

Yuen2017 G

ENPP1

7-0175-003

chr6:
132155819-132155819

T

C

intronic

De novo

-

-

Yuen2017 G

ENPP1

AU3900301

chr6:
132204154-132204159

CTTTTT

CTTTTTT

intronic

De novo

-

-

Yuen2017 G

ENPP1

AU1995302

chr6:
132140987-132140987

G

A

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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