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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     2-1348-003chr16:
69858863-69858863
GAintronicDe novo--Yuen2017 G
WWP2     AU006804chr16:
69946823-69946828
AAACAAAAAintronicDe novo--Yuen2017 G
WWP2     1-0901-003chr16:
69871288-69871288
CTintronicDe novo--Yuen2017 G
WWP2     5-0140-003chr16:
69953553-69953553
GAintronicDe novo--Yuen2017 G
WWP2     5-0061-003chr16:
69854377-69854377
TGintronicDe novo--Yuen2017 G
WWP2     AU4392301chr16:
69962634-69962634
GAintronicDe novo--Yuen2017 G
WWP2     F8997-1chr16:
69959371-69959371
CTexonicDe novosynonymous SNVNM_001270453
NM_001270454
NM_007014
c.C870T
c.C1218T
c.C1218T
p.P290P
p.P406P
p.P406P
--Satterstrom2020 E
WWP2     AU3724301chr16:
69818622-69818622
GAintronicDe novo--Yuen2017 G
WWP2     PN400499chr16:
69971091-69971091
GAexonicUnknownnonsynonymous SNVNM_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     1-0099-003chr16:
69982502-69982502
GAintergenicDe novo--Yuen2017 G
WWP2     7-0250-003chr16:
69918193-69918193
CTintronicDe novo--Yuen2017 G
WWP2     AU4359301chr16:
69839054-69839054
TCintronicDe novo--Yuen2017 G
WWP2     AU4197301chr16:
69825625-69825625
GAintronicDe novo--Yuen2017 G
WWP2     AU4197301chr16:
69830045-69830048
TTATTTintronicDe novo--Yuen2017 G
WWP2     12785.p1chr16:
69922119-69922119
CTexonicDe novononsynonymous SNVNM_001270453
NM_001270454
NM_001270455
NM_007014
c.C533T
c.C881T
c.C881T
c.C881T
p.A178V
p.A294V
p.A294V
p.A294V
14.088.296E-6Ji2016 E
Krumm2015 E
Satterstrom2020 E
Wilfert2021 G
Source Variant Information

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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 notesView
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