or
or
Exact

Results for "ENPP1"

Variant Events: 12

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     2-1107-003chr6:
132249110-132249110
CTintergenicDe novo--Yuen2017 G
ENPP1     1-0175-003chr6:
132259484-132259484
GAintergenicDe novo--Yuen2017 G
ENPP1     AU034903chr6:
132210079-132210079
GAintronicDe novo--Yuen2017 G
ENPP1     AU066404chr6:
132128989-132128989
GCupstreamDe novo--Yuen2017 G
ENPP1     2-1185-003chr6:
132232823-132232823
GCintergenicDe novo--Yuen2017 G
ENPP1     7-0175-003chr6:
132155819-132155819
TCintronicDe novo--Yuen2017 G
ENPP1     ASD056chr6:
132185700-132185703
TAAATexonicDe novononframeshift deletionNM_006208c.1081_1083delp.361_361del--Tran2020 E
Wu2019 E
ENPP1     1-0175-004chr6:
132259484-132259484
GAintergenicDe novo--Yuen2017 G
ENPP1     AU3900301chr6:
132204154-132204159
CTTTTTCTTTTTTintronicDe novo--Yuen2017 G
ENPP1     3-0437-000chr6:
132246949-132246949
ACintergenicDe novo--Yuen2016 G
ENPP1     AU1995302chr6:
132140987-132140987
GAintronicDe novo--Yuen2017 G
ENPP1     AU1640302chr6:
132206394-132206394
TCintronicDe 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 notesView
More