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Results for "WDFY4"

Variant Events: 38

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     7-0168-003chr10:
49907437-49907437
GAintronicDe novo--Yuen2017 G
WDFY4     1-0413-003chr10:
50174653-50174653
CTexonicDe novononsynonymous SNVNM_020945c.C8519Tp.P2840L1.541-Yuen2016 G
WDFY4     1-0173-004chr10:
49989880-49989880
AATintronicDe novo--Yuen2017 G
WDFY4     AU4242302chr10:
49912225-49912225
GAintronicDe novo--Yuen2017 G
WDFY4     JASD_Fam0180chr10:
50155005-50155005
CTexonicDe novosynonymous SNVNM_020945c.C7968Tp.C2656C4.255-Takata2018 E
WDFY4     12497.p1chr10:
49982706-49982706
GAexonicDe novosynonymous SNVNM_020945c.G2757Ap.P919P0.385-Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
WDFY4     2-1486-003chr10:
50021015-50021015
AGintronicDe novo--Yuen2016 G
Yuen2017 G
WDFY4     iHART3047chr10:
50018651-50018652
ACAexonicPaternalframeshift deletionNM_020945c.4916delCp.T1639fs--Ruzzo2019 G
WDFY4     1-0329-003chr10:
50093945-50093946
CTCintronicDe novo--Yuen2017 G
WDFY4     3-0661-000chr10:
49989249-49989249
GAintronicDe novo--Yuen2017 G
WDFY4     NP112chr10:
50155005-50155005
CTexonicDe novosynonymous SNVNM_020945c.C7968Tp.C2656C4.255-Lim2017 E
Satterstrom2020 E
WDFY4     AU4467302chr10:
49961699-49961699
TCintronicDe novo--Yuen2017 G
WDFY4     iHART3044chr10:
50018651-50018652
ACAexonicPaternalframeshift deletionNM_020945c.4916delCp.T1639fs--Ruzzo2019 G
WDFY4     iHART3046chr10:
50018651-50018652
ACAexonicPaternalframeshift deletionNM_020945c.4916delCp.T1639fs--Ruzzo2019 G
WDFY4     Shi2013:2chr10:
50038901-50038901
CTexonicInheritednonsynonymous SNVNM_020945c.C6497Tp.T2166M11.28-Shi2013 G
WDFY4     11359.p1chr10:
50025336-50025336
CAexonicDe novononsynonymous SNVNM_020945c.C5387Ap.A1796D7.922-Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
WDFY4     1-0121-003chr10:
50048501-50048501
CTintronicDe novo--Yuen2017 G
WDFY4     AU060703chr10:
50152633-50152633
TGintronicDe novo--Yuen2017 G
WDFY4     11249.p1chr10:
50075397-50075397
AGintronicDe novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
WDFY4     11178.p1chr10:
50109868-50109868
CAexonicDe novononsynonymous SNVNM_020945c.C7546Ap.L2516M15.88-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
WDFY4     AU075803chr10:
49914525-49914525
CAintronicDe novo--Yuen2017 G
WDFY4     Shi2013:1chr10:
50038901-50038901
CTexonicInheritednonsynonymous SNVNM_020945c.C6497Tp.T2166M11.28-Shi2013 G
WDFY4     7-0001-003chr10:
50095129-50095129
CTintronicDe novo--Yuen2017 G
WDFY4     AU3635301chr10:
50011475-50011475
TCintronicDe novo--Yuen2017 G
WDFY4     AU2248302chr10:
49935641-49935641
CTexonicDe novononsynonymous SNVNM_020945c.C908Tp.S303L17.02-Yuen2017 G
WDFY4     AU4150301chr10:
49977033-49977033
CTintronicDe novo--Yuen2017 G
WDFY4     1-0627-007chr10:
50189970-50189970
TCintronicDe novo--Yuen2017 G
WDFY4     3-0482-000chr10:
50083339-50083339
ATintronicDe novo--Yuen2017 G
WDFY4     AU3760302chr10:
50097307-50097307
ATintronicDe novo--Yuen2017 G
WDFY4     AU2569301chr10:
49932153-49932153
CTintronicDe novo--Yuen2017 G
WDFY4     1-0191-004chr10:
50047958-50047961
TGTGTintronicDe novo--Yuen2017 G
WDFY4     12673.p1chr10:
49939237-49939237
AGexonicMosaic, De novosynonymous SNVNM_020945c.A1212Gp.Q404Q--Krumm2015 E
Krupp2017 E
WDFY4     1-0148-005chr10:
50098075-50098075
CGintronicDe novo--Yuen2017 G
WDFY4     2-1620-004chr10:
50165094-50165094
CTintronicDe novo--Yuen2017 G
WDFY4     2-1730-003chr10:
49937233-49937233
CTintronicDe novo--Yuen2017 G
WDFY4     SSC05396chr10:
49939237-49939237
AGexonicMosaicsynonymous SNVNM_020945c.A1212Gp.Q404Q--Lim2017 E
WDFY4     Lim2017:31700chr10:
50109868-50109868
CAexonicDe novononsynonymous SNVNM_020945c.C7546Ap.L2516M15.88-Lim2017 E
WDFY4     SSC06431chr10:
49982706-49982706
GAexonicDe novosynonymous SNVNM_020945c.G2757Ap.P919P0.385-Lim2017 E
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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