or
or
Exact

Results for "WNT7B"

Variant Events: 16

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
WNT7B     1-0567-003chr22:
46363162-46363162
CTintronicDe novo--Yuen2017 G
WNT7B     SP0034139chr22:
46319069-46319069
CAexonicDe novononsynonymous SNVNM_058238c.G717Tp.E239D17.79-Feliciano2019 E
WNT7B     2-1487-003chr22:
46337111-46337111
CTintronicDe novo--Yuen2017 G
WNT7B     1382chr22:
46345959-46345959
GAexonicPaternalnonsynonymous SNVNM_058238c.C139Tp.R47W21.3-Wang2020 T
Wang2020 T
WNT7B     217-14227-3610 Complex Event; expand row to view variants  Inherited, Unknown-5.982E-5Stessman2017 T
Wang2020 T
Wang2020 T
WNT7B     HEN413.p1chr22:
46318786-46318786
CGexonicUnknownnonsynonymous SNVNM_058238c.G1000Cp.V334L28.0-Wang2020 T
Wang2020 T
WNT7B     AU4284301chr22:
46329673-46329673
CTintronicDe novo--Yuen2017 G
WNT7B     63661508chr22:
46318900-46318900
GAexonicUnknownnonsynonymous SNVNM_058238c.C886Tp.R296C18.692.498E-5Wang2020 T
WNT7B     F10312-1chr22:
46367996-46367996
GGGCCCintronicDe novo--Satterstrom2020 E
WNT7B     13393.p1chr22:
46371972-46371972
CTintronicDe novo--Turner2016 G
WNT7B     259371chr22:
46319122-46319122
GAexonicUnknownstopgainNM_058238c.C664Tp.R222X39.08.344E-6Wang2020 T
Wang2020 T
WNT7B     2-1415-004chr22:
46354593-46354593
GAintronicDe novo--Yuen2017 G
WNT7B     293688chr22:
46319122-46319122
GAexonicUnknownstopgainNM_058238c.C664Tp.R222X39.08.344E-6Wang2020 T
Wang2020 T
Wang2020 T
Wang2020 T
WNT7B     AU0452304chr22:
46321941-46321941
GAintronicDe novo--Yuen2017 G
WNT7B     SF0105483.p1chr22:
46319029-46319029
GAexonicDe novononsynonymous SNVNM_058238c.C757Tp.R253C16.53.322E-5Wang2020 T
WNT7B     13033.p1chr22:
46372611-46372611
CTexonicDe novostopgainNM_058238c.G24Ap.W8X19.62-Iossifov2014 E
Ji2016 E
Kosmicki2017 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 notesView
More