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Results for "XIRP1"

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
XIRP1     JASD_Fam0233chr3:
39226658-39226658
TTGexonicDe novoframeshift insertionNM_194293c.4278dupCp.K1427fs-8.645E-6Takata2018 E
XIRP1     1-0138-004chr3:
39273065-39273065
CTintergenicDe novo--Yuen2017 G
XIRP1     2-0295-004chr3:
39250781-39250781
AAGAAAGintergenicDe novo--Yuen2017 G
XIRP1     PN400267chr3:
39227504-39227504
CTexonicUnknownnonsynonymous SNVNM_194293c.G3433Ap.A1145T18.537.0E-4Leblond2019 E
XIRP1     PN400308chr3:
39227504-39227504
CTexonicUnknownnonsynonymous SNVNM_194293c.G3433Ap.A1145T18.537.0E-4Leblond2019 E
XIRP1     2-1408-004chr3:
39250781-39250781
AAGAAAGintergenicDe novo--Yuen2017 G
XIRP1     iHART1485chr3:
39229321-39229322
CGCexonicMaternalframeshift deletionNM_001198621
NM_194293
c.1615delC
c.1615delC
p.R539fs
p.R539fs
--Ruzzo2019 G
XIRP1     PN400347chr3:
39228853-39228853
CGexonicUnknownnonsynonymous SNVNM_001198621
NM_194293
c.G2084C
c.G2084C
p.R695P
p.R695P
21.02.0E-4Leblond2019 E
XIRP1     iHART2630chr3:
39229229-39229229
GAexonicPaternalstopgainNM_001198621
NM_194293
c.C1708T
c.C1708T
p.R570X
p.R570X
24.23.0E-4Ruzzo2019 G
XIRP1     1-0382-004chr3:
39278331-39278331
GAintergenicDe novo--Yuen2017 G
XIRP1     3-0185-000chr3:
39262660-39262665
CAAAAACAAintergenicDe novo--Yuen2017 G
XIRP1     13253.p1chr3:
39229490-39229490
CTexonicDe novononsynonymous SNVNM_001198621
NM_194293
c.G1447A
c.G1447A
p.V483M
p.V483M
15.24-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
XIRP1     iHART1483chr3:
39229321-39229322
CGCexonicMaternalframeshift deletionNM_001198621
NM_194293
c.1615delC
c.1615delC
p.R539fs
p.R539fs
--Ruzzo2019 G
XIRP1     12379.p1chr3:
39230164-39230164
CTexonicDe novononsynonymous SNVNM_001198621
NM_194293
c.G773A
c.G773A
p.R258Q
p.R258Q
29.22.0E-4Ji2016 E
Krumm2015 E
Lim2017 E
Satterstrom2020 E
XIRP1     PN400266chr3:
39227504-39227504
CTexonicUnknownnonsynonymous SNVNM_194293c.G3433Ap.A1145T18.537.0E-4Leblond2019 E
XIRP1     PN400504chr3:
39228853-39228853
CGexonicUnknownnonsynonymous SNVNM_001198621
NM_194293
c.G2084C
c.G2084C
p.R695P
p.R695P
21.02.0E-4Leblond2019 E
Source Variant Information

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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
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