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Results for "XRN1"

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
XRN1     AU061003chr3:
142128867-142128870
TAAATAAAAAintronicDe novo--Yuen2017 G
XRN1     AU4343302chr3:
142133123-142133123
AGexonicDe novononsynonymous SNVNM_001282857
NM_019001
c.T1447C
c.T1447C
p.Y483H
p.Y483H
10.14-Yuen2017 G
XRN1     Chen2017:57chr3:
142083987-142083987
CTexonicDe novononsynonymous SNVNM_001282857
NM_019001
c.G3296A
c.G3296A
p.R1099Q
p.R1099Q
17.87-Chen2017 E
XRN1     Marques2022:222chr3:
142051814-142051814
CTexonicnonsynonymous SNVNM_001282857
NM_019001
c.G4057A
c.G4057A
p.A1353T
p.A1353T
27.73.304E-5Marques2022 ET
XRN1     Marques2022:221chr3:
142031589-142031589
GCexonicnonsynonymous SNVNM_001282857
NM_019001
c.C4633G
c.C4669G
p.P1545A
p.P1557A
18.372.0E-4Marques2022 ET
XRN1     Marques2022:224chr3:
142084168-142084168
GTexonicnonsynonymous SNVNM_001282857
NM_019001
c.C3245A
c.C3245A
p.P1082H
p.P1082H
17.815.79E-5Marques2022 ET
XRN1     Marques2022:223chr3:
142075938-142075938
CTexonicnonsynonymous SNVNM_001282857
NM_019001
c.G3488A
c.G3488A
p.R1163Q
p.R1163Q
35.0-Marques2022 ET
XRN1     Marques2022:229chr3:
142142460-142142461
CACexonicframeshift deletionNM_001282857
NM_001282859
NM_019001
c.651delT
c.651delT
c.651delT
p.H217fs
p.H217fs
p.H217fs
--Marques2022 ET
XRN1     2-1277-003chr3:
142080733-142080733
GCintronicDe novo--Yuen2017 G
XRN1     1-0387-003chr3:
142149231-142149231
CGintronicDe novo--Yuen2017 G
XRN1     EGAN00001101331chr3:
142090113-142090113
TCexonicDe novosynonymous SNVNM_001282857
NM_019001
c.A3036G
c.A3036G
p.E1012E
p.E1012E
--Satterstrom2020 E
XRN1     Marques2022:226chr3:
142102200-142102200
AGexonicnonsynonymous SNVNM_001282857
NM_019001
c.T2558C
c.T2558C
p.F853S
p.F853S
29.6-Marques2022 ET
XRN1     Marques2022:225chr3:
142089400-142089400
CTexonicnonsynonymous SNVNM_001282857
NM_019001
c.G3131A
c.G3131A
p.R1044H
p.R1044H
34.04.961E-5Marques2022 ET
XRN1     Marques2022:228chr3:
142141436-142141436
GAexonicnonsynonymous SNVNM_001282857
NM_001282859
NM_019001
c.C955T
c.C955T
c.C955T
p.P319S
p.P319S
p.P319S
26.70.005Marques2022 ET
XRN1     2-1480-003chr3:
142139978-142139978
GGTexonicDe novoframeshift insertionNM_001282857
NM_001282859
NM_019001
c.1052_1053insA
c.1052_1053insA
c.1052_1053insA
p.F351fs
p.F351fs
p.F351fs
--Yuen2016 G
Yuen2017 G
XRN1     Marques2022:227chr3:
142141436-142141436
GAexonicnonsynonymous SNVNM_001282857
NM_001282859
NM_019001
c.C955T
c.C955T
c.C955T
p.P319S
p.P319S
p.P319S
26.70.005Marques2022 ET
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.
Variant event count
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