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Results for "WDR1"

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
WDR1     2-1246-003chr4:
10326377-10326377
GAintergenicDe novo--Yuen2017 G
WDR1     7-0100-004chr4:
10177367-10177367
TGintergenicDe novo--Yuen2017 G
WDR1     2-1283-004chr4:
10345569-10345569
ACintergenicDe novo--Yuen2017 G
WDR1     3268_16mrchr4:
10084809-10084809
TGintronicDe novo--Satterstrom2020 E
WDR1     1-0625-003chr4:
10383431-10383431
CAintergenicDe novo--Yuen2017 G
WDR1     1-0271-004chr4:
10360637-10360637
GAintergenicDe novo--Yuen2017 G
WDR1     SP0033566chr4:
10105578-10105578
GAexonicDe novosynonymous SNVNM_017491c.C171Tp.H57H-1.824E-5Feliciano2019 E
WDR1     AU3371305chr4:
10322274-10322274
CTintergenicDe novo--Yuen2017 G
WDR1     AU3839302chr4:
10203035-10203035
CTintergenicDe novo--Yuen2017 G
WDR1     1-0481-003chr4:
10205229-10205229
CTintergenicDe novo--Yuen2017 G
WDR1     2-1207-003chr4:
10138351-10138351
GTintergenicDe novo--Yuen2016 G
Yuen2017 G
WDR1     5-0030-003chr4:
10432468-10432468
CTintergenicDe novo--Yuen2017 G
WDR1     2-1389-003chr4:
10163332-10163332
GTintergenicDe novo--Yuen2016 G
Yuen2017 G
WDR1     AU3846302chr4:
10344953-10344953
GCintergenicDe novo--Yuen2017 G
WDR1     2-1327-004chr4:
10385831-10385831
TGintergenicDe novo--Yuen2017 G
WDR1     2-1315-003 Complex Event; expand row to view variants  De novo--Yuen2016 G
Yuen2017 G
WDR1     2-0210-004chr4:
10208984-10208984
GAintergenicDe novo--Yuen2017 G
WDR1     200675779@1082034642chr4:
10117822-10117822
CTexonicDe novononsynonymous SNVNM_005112
NM_017491
c.G53A
c.G53A
p.G18D
p.G18D
28.3-Satterstrom2020 E
WDR1     AU3913301chr4:
10357402-10357402
GCintergenicDe novo--Yuen2017 G
WDR1     1-0918-003chr4:
10254148-10254152
CTTTTCTTintergenicDe novo--Yuen2017 G
WDR1     2-1189-003chr4:
10106147-10106147
GAintronicDe novo--Yuen2016 G
Yuen2017 G
WDR1     2-1205-003chr4:
10128753-10128753
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
WDR1     3-0661-000chr4:
10256809-10256809
GCintergenicDe novo--Yuen2017 G
WDR1     2-1244-003chr4:
10271007-10271007
GAintergenicDe novo--Yuen2017 G
WDR1     2-1283-003chr4:
10345569-10345569
ACintergenicDe novo--Yuen2017 G
WDR1     AU0786305chr4:
10166650-10166650
GAintergenicDe novo--Yuen2017 G
WDR1     3-0661-000chr4:
10256234-10256234
CAintergenicDe novo--Yuen2017 G
WDR1     1-0080-003chr4:
10329393-10329393
TCintergenicDe novo--Yuen2017 G
WDR1     2-1355-003chr4:
10419325-10419325
GTintergenicDe novo--Yuen2017 G
WDR1     2-0197-004chr4:
10309867-10309867
ATintergenicDe novo--Yuen2017 G
WDR1     2-0197-004chr4:
10304084-10304084
CGintergenicDe novo--Yuen2017 G
WDR1     2-0144-004chr4:
10088046-10088048
CTACintronicDe novo--Yuen2017 G
WDR1     Chen2017:42chr4:
10117822-10117822
CTexonicDe novononsynonymous SNVNM_005112
NM_017491
c.G53A
c.G53A
p.G18D
p.G18D
28.3-Chen2017 E
WDR1     EGAN00001101028chr4:
10089612-10089612
GCintronicDe novo--Satterstrom2020 E
WDR1     AU028305chr4:
10129786-10129786
GAintergenicDe novo--Yuen2017 G
WDR1     AU017703chr4:
10118988-10118988
TGupstreamDe novo--Yuen2017 G
WDR1     2-1277-003chr4:
10133375-10133375
GAintergenicDe novo--Yuen2017 G
WDR1     AU3712301chr4:
10388615-10388615
TCintergenicDe novo--Yuen2017 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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