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Results for "XIRP1"

Variant Events: 25

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     SP0178337chr3:
39229421-39229421		CTexonicDe novononsynonymous SNVNM_001198621
NM_194293		c.G1516A
c.G1516A		p.G506R
p.G506R		11.053.296E-5Trost2022 G
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     mAGRE5368chr3:
39229229-39229229		GAexonicPaternalstopgainNM_001198621
NM_194293		c.C1708T
c.C1708T		p.R570X
p.R570X		24.23.0E-4Cirnigliaro2023 G
XIRP1     iHART1485chr3:
39229321-39229322		CGCexonicMaternalframeshift deletionNM_001198621
NM_194293		c.1615delC
c.1615delC		p.R539fs
p.R539fs		--Ruzzo2019 G
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     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
Trost2022 G
Wilfert2021 G
Zhou2022 GE
XIRP1     SP0064215chr3:
39227806-39227806		GAexonicDe novononsynonymous SNVNM_001198621
NM_194293		c.C3131T
c.C3131T		p.P1044L
p.P1044L		0.5685.801E-5Fu2022 E
Trost2022 G
Zhou2022 GE
XIRP1     iHART1483chr3:
39229321-39229322		CGCexonicMaternalframeshift deletionNM_001198621
NM_194293		c.1615delC
c.1615delC		p.R539fs
p.R539fs		--Ruzzo2019 G
XIRP1     PN400266chr3:
39227504-39227504		CTexonicUnknownnonsynonymous SNVNM_194293c.G3433Ap.A1145T18.537.0E-4Leblond2019 E
XIRP1     JASD_Fam0233chr3:
39226658-39226658		TTGexonicDe novoframeshift insertionNM_194293c.4278dupCp.K1427fs-8.645E-6Takata2018 E
XIRP1     TRE_1901chr3:
39230571-39230571		GAexonicDe novosynonymous SNVNM_001198621
NM_194293		c.C366T
c.C366T		p.D122D
p.D122D		-3.298E-5Fu2022 E
XIRP1     2-1408-004chr3:
39250781-39250781		AAGAAAGintergenicDe novo--Yuen2017 G
XIRP1     PN400347chr3:
39228853-39228853		CGexonicUnknownnonsynonymous SNVNM_001198621
NM_194293		c.G2084C
c.G2084C		p.R695P
p.R695P		21.02.0E-4Leblond2019 E
XIRP1     3-0185-000chr3:
39262660-39262665		CAAAAACAAintergenicDe novo--Yuen2017 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
Trost2022 G
Zhou2022 GE
XIRP1     PN400504chr3:
39228853-39228853		CGexonicUnknownnonsynonymous SNVNM_001198621
NM_194293		c.G2084C
c.G2084C		p.R695P
p.R695P		21.02.0E-4Leblond2019 E
XIRP1     mAGRE2630chr3:
39229229-39229229		GAexonicPaternalstopgainNM_001198621
NM_194293		c.C1708T
c.C1708T		p.R570X
p.R570X		24.23.0E-4Cirnigliaro2023 G
XIRP1     2-1772-003chr3:
39225708-39225708		TAexonicDe novononsynonymous SNVNM_194293c.A5229Tp.R1743S6.58-Trost2022 G
Zhou2022 GE
XIRP1     mAGRE4912chr3:
39227585-39227586		TGTexonicMaternalframeshift deletionNM_001198621
NM_194293		c.3351delC
c.3351delC		p.P1117fs
p.P1117fs		-1.658E-5Cirnigliaro2023 G
XIRP1     AU4069302chr3:
39225995-39225995		CAexonicPaternalstopgainNM_194293c.G4942Tp.E1648X22.9-Cirnigliaro2023 G
XIRP1     13253_p1chr3:
39229490-39229490		CTexonicDe novononsynonymous SNVNM_001198621
NM_194293		c.G1447A
c.G1447A		p.V483M
p.V483M		15.24-Fu2022 E
Source Variant Information

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Source:

Paper alias:

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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.
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