Variant Results

or

Results for "WDFY4"

Variant Events: 45

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

WDFY4

7-0168-003

chr10:
49907437-49907437

G

A

intronic

De novo

-

Yuen2017 G

WDFY4

1-0413-003

chr10:
50174653-50174653

C

T

exonic

De novo

nonsynonymous SNV

NM_020945

c.C8519T

p.P2840L

1.541

-

Yuen2016 G

WDFY4

1-0173-004

chr10:
49989880-49989880

A

AT

intronic

De novo

-

Yuen2017 G

WDFY4

AU4242302

chr10:
49912225-49912225

G

A

intronic

De novo

-

Yuen2017 G

WDFY4

SP0011605

chr10:
50085072-50085072

C

A

intronic

De novo

-

Fu2022 E

WDFY4

JASD_Fam0180

chr10:
50155005-50155005

C

T

exonic

De novo

synonymous SNV

NM_020945

c.C7968T

p.C2656C

4.255

-

Takata2018 E

WDFY4

SP0100797

chr10:
50030541-50030541

C

G

exonic

De novo

nonsynonymous SNV

NM_020945

c.C5941G

p.P1981A

12.42

-

Fu2022 E

WDFY4

SP0085744

chr10:
49982568-49982568

C

A

exonic

De novo

nonsynonymous SNV

NM_020945

c.C2619A

p.N873K

16.41

-

Fu2022 E

WDFY4

SP0092636

chr10:
50075418-50075418

C

T

intronic

De novo

-

Fu2022 E

WDFY4

SP0020210

chr10:
49928224-49928224

A

G

intronic

De novo

-

Fu2022 E

WDFY4

12497.p1

chr10:
49982706-49982706

G

A

exonic

De novo

synonymous SNV

NM_020945

c.G2757A

p.P919P

0.385

-

Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

WDFY4

2-1486-003

chr10:
50021015-50021015

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

WDFY4

iHART3047

chr10:
50018651-50018652

AC

A

exonic

Paternal

frameshift deletion

NM_020945

c.4916delC

p.T1639fs

-

Ruzzo2019 G

WDFY4

1-0329-003

chr10:
50093945-50093946

CT

C

intronic

De novo

-

Yuen2017 G

WDFY4

3-0661-000

chr10:
49989249-49989249

G

A

intronic

De novo

-

Yuen2017 G

WDFY4

NP112

chr10:
50155005-50155005

C

T

exonic

De novo

synonymous SNV

NM_020945

c.C7968T

p.C2656C

4.255

-

Fu2022 E
Lim2017 E
Satterstrom2020 E

WDFY4

AU4467302

chr10:
49961699-49961699

T

C

intronic

De novo

-

Yuen2017 G

WDFY4

iHART3044

chr10:
50018651-50018652

AC

A

exonic

Paternal

frameshift deletion

NM_020945

c.4916delC

p.T1639fs

-

Ruzzo2019 G

WDFY4

iHART3046

chr10:
50018651-50018652

AC

A

exonic

Paternal

frameshift deletion

NM_020945

c.4916delC

p.T1639fs

-

Ruzzo2019 G

WDFY4

Shi2013:2

chr10:
50038901-50038901

C

T

exonic

Inherited

nonsynonymous SNV

NM_020945

c.C6497T

p.T2166M

11.28

-

Shi2013 G

WDFY4

11359.p1

chr10:
50025336-50025336

C

A

exonic

De novo

nonsynonymous SNV

NM_020945

c.C5387A

p.A1796D

7.922

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

WDFY4

1-0121-003

chr10:
50048501-50048501

C

T

intronic

De novo

-

Yuen2017 G

WDFY4

AU060703

chr10:
50152633-50152633

T

G

intronic

De novo

-

Yuen2017 G

WDFY4

11249.p1

chr10:
50075397-50075397

A

G

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

WDFY4

11178.p1

chr10:
50109868-50109868

C

A

exonic

De novo

nonsynonymous SNV

NM_020945

c.C7546A

p.L2516M

15.88

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E

WDFY4

AU075803

chr10:
49914525-49914525

C

A

intronic

De novo

-

Yuen2017 G

WDFY4

Shi2013:1

chr10:
50038901-50038901

C

T

exonic

Inherited

nonsynonymous SNV

NM_020945

c.C6497T

p.T2166M

11.28

-

Shi2013 G

WDFY4

7-0001-003

chr10:
50095129-50095129

C

T

intronic

De novo

-

Yuen2017 G

WDFY4

AU3635301

chr10:
50011475-50011475

T

C

intronic

De novo

-

Yuen2017 G

WDFY4

AU2248302

chr10:
49935641-49935641

C

T

exonic

De novo

nonsynonymous SNV

NM_020945

c.C908T

p.S303L

17.02

-

Yuen2017 G

WDFY4

AU4150301

chr10:
49977033-49977033

C

T

intronic

De novo

-

Yuen2017 G

WDFY4

1-0627-007

chr10:
50189970-50189970

T

C

intronic

De novo

-

Yuen2017 G

WDFY4

3-0482-000

chr10:
50083339-50083339

A

T

intronic

De novo

-

Yuen2017 G

WDFY4

AU3760302

chr10:
50097307-50097307

A

T

intronic

De novo

-

Yuen2017 G

WDFY4

AU2569301

chr10:
49932153-49932153

C

T

intronic

De novo

-

Yuen2017 G

WDFY4

1-0191-004

chr10:
50047958-50047961

TGTG

T

intronic

De novo

-

Yuen2017 G

WDFY4

SSC01033

chr10:
50025336-50025336

C

A

exonic

De novo

nonsynonymous SNV

NM_020945

c.C5387A

p.A1796D

7.922

-

Fu2022 E

WDFY4

12673.p1

chr10:
49939237-49939237

A

G

exonic

Mosaic, De novo

synonymous SNV

NM_020945

c.A1212G

p.Q404Q

-

Krumm2015 E
Krupp2017 E

WDFY4

1-0148-005

chr10:
50098075-50098075

C

G

intronic

De novo

-

Yuen2017 G

WDFY4

2-1620-004

chr10:
50165094-50165094

C

T

intronic

De novo

-

Yuen2017 G

WDFY4

31700

chr10:
50109868-50109868

C

A

exonic

De novo

nonsynonymous SNV

NM_020945

c.C7546A

p.L2516M

15.88

-

Fu2022 E

WDFY4

2-1730-003

chr10:
49937233-49937233

C

T

intronic

De novo

-

Yuen2017 G

WDFY4

SSC05396

chr10:
49939237-49939237

A

G

exonic

Mosaic

synonymous SNV

NM_020945

c.A1212G

p.Q404Q

-

Lim2017 E

WDFY4

Lim2017:31700

chr10:
50109868-50109868

C

A

exonic

De novo

nonsynonymous SNV

NM_020945

c.C7546A

p.L2516M

15.88

-

Lim2017 E

WDFY4

SSC06431

chr10:
49982706-49982706

G

A

exonic

De novo

synonymous SNV

NM_020945

c.G2757A

p.P919P

0.385

-

Fu2022 E
Lim2017 E

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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