Variant Results

or

Results for "XRN1"

Variant Events: 19

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

SP0096824

chr3:
142030490-142030490

G

C

exonic

De novo

nonsynonymous SNV

NM_001282857
NM_019001

c.C4948G
c.C4984G

p.P1650A
p.P1662A

0.558

-

Fu2022 E

XRN1

SP0088140

chr3:
142098964-142098964

G

A

exonic

De novo

nonsynonymous SNV

NM_001282857
NM_019001

c.C2675T
c.C2675T

p.P892L
p.P892L

25.1

-

Fu2022 E

XRN1

AU061003

chr3:
142128867-142128870

TAAA

TAAAAA

intronic

De novo

-

Yuen2017 G

XRN1

AU4343302

chr3:
142133123-142133123

A

G

exonic

De novo

nonsynonymous SNV

NM_001282857
NM_019001

c.T1447C
c.T1447C

p.Y483H
p.Y483H

10.14

-

Yuen2017 G

XRN1

Chen2017:57

chr3:
142083987-142083987

C

T

exonic

De novo

nonsynonymous SNV

NM_001282857
NM_019001

c.G3296A
c.G3296A

p.R1099Q
p.R1099Q

17.87

-

Chen2017 E

XRN1

A1385B

chr3:
142048437-142048437

G

A

exonic

De novo

nonsynonymous SNV

NM_001282857
NM_019001

c.C4243T
c.C4240T

p.H1415Y
p.H1414Y

16.82

-

Fu2022 E

XRN1

Marques2022:222

chr3:
142051814-142051814

C

T

exonic

nonsynonymous SNV

NM_001282857
NM_019001

c.G4057A
c.G4057A

p.A1353T
p.A1353T

27.7

3.304E-5

Marques2022 ET

XRN1

Marques2022:221

chr3:
142031589-142031589

G

C

exonic

nonsynonymous SNV

NM_001282857
NM_019001

c.C4633G
c.C4669G

p.P1545A
p.P1557A

18.37

2.0E-4

Marques2022 ET

XRN1

Marques2022:224

chr3:
142084168-142084168

G

T

exonic

nonsynonymous SNV

NM_001282857
NM_019001

c.C3245A
c.C3245A

p.P1082H
p.P1082H

17.81

5.79E-5

Marques2022 ET

XRN1

Marques2022:223

chr3:
142075938-142075938

C

T

exonic

nonsynonymous SNV

NM_001282857
NM_019001

c.G3488A
c.G3488A

p.R1163Q
p.R1163Q

35.0

-

Marques2022 ET

XRN1

Marques2022:229

chr3:
142142460-142142461

CA

C

exonic

frameshift deletion

NM_001282857
NM_001282859
NM_019001

c.651delT
c.651delT
c.651delT

p.H217fs
p.H217fs
p.H217fs

-

Marques2022 ET

XRN1

2-1277-003

chr3:
142080733-142080733

G

C

intronic

De novo

-

Yuen2017 G

XRN1

1-0387-003

chr3:
142149231-142149231

C

G

intronic

De novo

-

Yuen2017 G

XRN1

EGAN00001101331

chr3:
142090113-142090113

T

C

exonic

De novo

synonymous SNV

NM_001282857
NM_019001

c.A3036G
c.A3036G

p.E1012E
p.E1012E

-

Fu2022 E
Satterstrom2020 E

XRN1

Marques2022:226

chr3:
142102200-142102200

A

G

exonic

nonsynonymous SNV

NM_001282857
NM_019001

c.T2558C
c.T2558C

p.F853S
p.F853S

29.6

-

Marques2022 ET

XRN1

Marques2022:225

chr3:
142089400-142089400

C

T

exonic

nonsynonymous SNV

NM_001282857
NM_019001

c.G3131A
c.G3131A

p.R1044H
p.R1044H

34.0

4.961E-5

Marques2022 ET

XRN1

Marques2022:228

chr3:
142141436-142141436

G

A

exonic

nonsynonymous SNV

NM_001282857
NM_001282859
NM_019001

c.C955T
c.C955T
c.C955T

p.P319S
p.P319S
p.P319S

26.7

0.005

Marques2022 ET

XRN1

2-1480-003

chr3:
142139978-142139978

G

GT

exonic

De novo

frameshift insertion

NM_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

Marques2022:227

chr3:
142141436-142141436

G

A

exonic

nonsynonymous SNV

NM_001282857
NM_001282859
NM_019001

c.C955T
c.C955T
c.C955T

p.P319S
p.P319S
p.P319S

26.7

0.005

Marques2022 ET

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 notes	View
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