Variant Results

or

Results for "WRN"

Variant Events: 34

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

WRN

12650.p1

chr8:
31008747-31008747

A

G

intronic

Mosaic

-

Dou2017 E

WRN

2-1725-003

chr8:
31078683-31078683

A

C

intergenic

De novo

-

Yuen2017 G

WRN

2-1506-003

chr8:
31336632-31336632

A

C

intergenic

De novo

-

Yuen2017 G

WRN

1-0257-003

chr8:
31414808-31414808

A

G

intergenic

De novo

-

Yuen2017 G

WRN

2-1283-003

chr8:
30919836-30919836

C

G

intronic

De novo

-

Yuen2017 G

WRN

AU3881302

chr8:
31046657-31046657

G

T

intergenic

De novo

-

Yuen2017 G

WRN

2-1005-003

chr8:
31449707-31449707

C

T

intergenic

De novo

-

Yuen2017 G

WRN

AU005213

chr8:
30893748-30893748

A

G

intronic

De novo

-

Yuen2017 G

WRN

2-0297-004

chr8:
30916443-30916443

G

A

intronic

De novo

-

Yuen2017 G

WRN

1-0455-004

chr8:
31444187-31444189

CTT

C

intergenic

De novo

-

Yuen2017 G

WRN

2-0110-003

chr8:
31089654-31089654

G

C

intergenic

De novo

-

Yuen2017 G

WRN

AU4237301

chr8:
31057455-31057455

T

C

intergenic

De novo

-

Yuen2017 G

WRN

AU3857301

chr8:
31201668-31201668

C

T

intergenic

De novo

-

Yuen2017 G

WRN

1-0994-003

chr8:
31161825-31161831

ATATTAT

ATAT

intergenic

De novo

-

Yuen2017 G

WRN

7-0166-003

chr8:
31086333-31086333

C

T

intergenic

De novo

-

Yuen2017 G

WRN

1-0052-004

chr8:
31337816-31337816

T

TAGAG

intergenic

De novo

-

Yuen2017 G

WRN

AU3852301

chr8:
31315315-31315315

G

A

intergenic

De novo

-

Yuen2017 G

WRN

2-1283-004

chr8:
30919836-30919836

C

G

intronic

De novo

-

Yuen2017 G

WRN

iHART2357

chr8:
30969236-30969236

C

T

exonic

Maternal

stopgain

NM_000553

c.C2194T

p.R732X

42.0

2.473E-5

Ruzzo2019 G

WRN

iHART2355

chr8:
30969236-30969236

C

T

exonic

Maternal

stopgain

NM_000553

c.C2194T

p.R732X

42.0

2.473E-5

Ruzzo2019 G

WRN

AU3955303

chr8:
31377404-31377404

C

G

intergenic

De novo

-

Yuen2017 G

WRN

A24

chr8:
31143250-31143250

C

G

intergenic

De novo

-

Wu2018 G

WRN

iHART1317

chr8:
31004567-31004567

A

G

splicing

Maternal

splicing

18.55

8.808E-6

Ruzzo2019 G

WRN

AU4145303

chr8:
31067601-31067601

C

G

intergenic

De novo

-

Yuen2017 G

WRN

AU027506

chr8:
31300460-31300460

T

C

intergenic

De novo

-

Yuen2017 G

WRN

AU046703

chr8:
31062014-31062014

G

A

intergenic

De novo

-

Yuen2017 G

WRN

AU4235302

chr8:
31368276-31368279

ATTT

ATT

intergenic

De novo

-

Yuen2017 G

WRN

EGAN00001101341

chr8:
30999109-30999109

C

A

exonic

De novo

nonsynonymous SNV

NM_000553

c.C3131A

p.T1044K

16.91

-

Satterstrom2020 E

WRN

SP0036741

chr8:
31030593-31030593

C

T

exonic

De novo

nonsynonymous SNV

NM_000553

c.C4274T

p.T1425M

9.382

3.333E-5

Feliciano2019 E

WRN

2-1562-003

chr8:
31079852-31079852

G

A

intergenic

De novo

-

Yuen2017 G

WRN

2-1266-003

chr8:
31318573-31318573

G

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

WRN

14061.p1

chr8:
30942620-30942649

GCAGAAAAGAGGATATGAAGTCAATTATAT

G

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E

WRN

AU059903

chr8:
31218328-31218328

G

A

intergenic

De novo

-

Yuen2017 G

WRN

2-0006-003

chr8:
31494719-31494719

A

C

intergenic

De 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 notes	View
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