Variant Results

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or

Results for "WWP2"

Variant Events: 15

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

WWP2

2-1348-003

chr16:
69858863-69858863

G

A

intronic

De novo

-

-

Yuen2017 G

WWP2

AU006804

chr16:
69946823-69946828

AAACAA

AAA

intronic

De novo

-

-

Yuen2017 G

WWP2

1-0901-003

chr16:
69871288-69871288

C

T

intronic

De novo

-

-

Yuen2017 G

WWP2

5-0140-003

chr16:
69953553-69953553

G

A

intronic

De novo

-

-

Yuen2017 G

WWP2

5-0061-003

chr16:
69854377-69854377

T

G

intronic

De novo

-

-

Yuen2017 G

WWP2

AU4392301

chr16:
69962634-69962634

G

A

intronic

De novo

-

-

Yuen2017 G

WWP2

F8997-1

chr16:
69959371-69959371

C

T

exonic

De novo

synonymous SNV

NM_001270453
NM_001270454
NM_007014

c.C870T
c.C1218T
c.C1218T

p.P290P
p.P406P
p.P406P

-

-

Satterstrom2020 E

WWP2

AU3724301

chr16:
69818622-69818622

G

A

intronic

De novo

-

-

Yuen2017 G

WWP2

PN400499

chr16:
69971091-69971091

G

A

exonic

Unknown

nonsynonymous SNV

NM_199424
NM_001270453
NM_001270454
NM_007014

c.G871A
c.G1840A
c.G2188A
c.G2188A

p.E291K
p.E614K
p.E730K
p.E730K

36.0

-

Leblond2019 E

WWP2

1-0099-003

chr16:
69982502-69982502

G

A

intergenic

De novo

-

-

Yuen2017 G

WWP2

7-0250-003

chr16:
69918193-69918193

C

T

intronic

De novo

-

-

Yuen2017 G

WWP2

AU4359301

chr16:
69839054-69839054

T

C

intronic

De novo

-

-

Yuen2017 G

WWP2

AU4197301

chr16:
69825625-69825625

G

A

intronic

De novo

-

-

Yuen2017 G

WWP2

AU4197301

chr16:
69830045-69830048

TTAT

TT

intronic

De novo

-

-

Yuen2017 G

WWP2

12785.p1

chr16:
69922119-69922119

C

T

exonic

De novo

nonsynonymous SNV

NM_001270453
NM_001270454
NM_001270455
NM_007014

c.C533T
c.C881T
c.C881T
c.C881T

p.A178V
p.A294V
p.A294V
p.A294V

14.08

Ji2016 E
Krumm2015 E
Satterstrom2020 E
Wilfert2021 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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