or
or
Exact

Results for "ANTXR1"

Variant Events: 24

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
ANTXR1     1-0485-003chr2:
69346314-69346314
CTintronicDe novo--Yuen2017 G
ANTXR1     14482.p1chr2:
69306651-69306651
TAintronicDe novo--Turner2016 G
ANTXR1     1-0804-003chr2:
69358099-69358103
AAGAGAAGintronicDe novo--Yuen2017 G
ANTXR1     2-1426-003chr2:
69409213-69409213
TCintronicDe novo--Yuen2017 G
ANTXR1     AU005214chr2:
69330588-69330588
TCintronicDe novo--Yuen2017 G
ANTXR1     AU3695303chr2:
69287299-69287299
CGintronicDe novo--Yuen2017 G
ANTXR1     AU4145303chr2:
69448642-69448642
ATintronicDe novo--Yuen2017 G
ANTXR1     AU2117302chr2:
69299745-69299745
GAintronicDe novo--Yuen2017 G
ANTXR1     AU3874303chr2:
69340611-69340611
ACintronicDe novo--Yuen2017 G
ANTXR1     2-0215-003chr2:
69317302-69317302
GCintronicDe novo--Yuen2017 G
ANTXR1     AU3874303chr2:
69340613-69340613
AGintronicDe novo--Yuen2017 G
ANTXR1     1-0150-003chr2:
69249683-69249683
AGintronicDe novo--Yuen2017 G
ANTXR1     2-1375-003chr2:
69539680-69539680
ATintergenicDe novo--Yuen2016 G
Yuen2017 G
ANTXR1     1-0338-005chr2:
69364084-69364084
AGintronicDe novo--Yuen2017 G
ANTXR1     AU3811301chr2:
69344538-69344538
ACintronicDe novo--Yuen2017 G
ANTXR1     2-1185-003chr2:
69464802-69464802
GAintronicDe novo--Yuen2017 G
ANTXR1     A20chr2:
69441831-69441831
GAintronicDe novo--Wu2018 G
ANTXR1     AU4496301chr2:
69262353-69262353
GAintronicDe novo--Yuen2017 G
ANTXR1     1-0841-003chr2:
69310113-69310113
CGintronicDe novo--Yuen2017 G
ANTXR1     10C101202chr2:
69409650-69409650
CTexonicDe novononsynonymous SNVNM_032208c.C1211Tp.T404I19.24-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E
ANTXR1     AU3794302chr2:
69489104-69489104
CTintergenicDe novo--Yuen2017 G
ANTXR1     AU3646301chr2:
69528805-69528805
GAintergenicDe novo--Yuen2017 G
ANTXR1     2-1581-003chr2:
69372959-69372959
AGUTR3De novo--Yuen2017 G
ANTXR1     2-1715-003chr2:
69470507-69470507
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