or
or
Exact

Results for "XPR1"

Variant Events: 15

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
XPR1     2-1005-003chr1:
180809582-180809582
GCintronicDe novo--Yuen2017 G
XPR1     AU4269301chr1:
180818231-180818231
GTintronicDe novo--Yuen2017 G
XPR1     AU3786301chr1:
180708641-180708641
AGintronicDe novo--Yuen2017 G
XPR1     10C102268chr1:
180833028-180833028
GAintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
XPR1     08C74029chr1:
180601363-180601363
CAexonicDe novononsynonymous SNVNM_001135669
NM_004736
c.C26A
c.C26A
p.A9E
p.A9E
26.2-Satterstrom2020 E
XPR1     1-0338-003chr1:
180828199-180828199
AAGAAAACCATTintronicDe novo--Yuen2017 G
XPR1     048-05-102699chr1:
180775194-180775194
GAintronicDe novo--Satterstrom2020 E
XPR1     A14chr1:
180785507-180785507
CTintronicDe novo--Wu2018 G
XPR1     2-0149-005chr1:
180857538-180857538
CAUTR3De novo--Yuen2017 G
XPR1     AU1940304chr1:
180857900-180857900
CGUTR3De novo--Yuen2017 G
XPR1     AU1940304chr1:
180877517-180877517
GCintergenicDe novo--Yuen2017 G
XPR1     7-0222-003chr1:
180846021-180846021
CTintronicDe novo--Yuen2017 G
XPR1     12568.p1chr1:
180869411-180869411
TCintergenicDe novo--Turner2016 G
XPR1     1-0455-004chr1:
180828199-180828199
AAGAAAACCATTintronicDe novo--Yuen2017 G
XPR1     1-0595-005chr1:
180780845-180780845
GCintronicDe 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