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Results for "WDR37"
Variant Events: 19
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
WDR37
1-0248-003
chr10:
1110779-1110779
G
A
intronic
De novo
-
-
Yuen2017
G
WDR37
SP0107581
chr10:
1149610-1149610
C
T
exonic
De novo
synonymous SNV
NM_014023
c.C795T
p.S265S
-
1.657E-5
Fu2022
E
Trost2022
G
Zhou2022
G
E
WDR37
120708
chr10:
1126376-1126376
C
T
exonic
De novo
nonsynonymous SNV
NM_014023
c.C356T
p.S119F
29.6
-
Fu2022
E
WDR37
13998.p1
chr10:
1118115-1118115
G
A
exonic
De novo
nonsynonymous SNV
NM_014023
c.G20A
p.S7N
15.62
-
Iossifov2014
E
Ji2016
E
Kosmicki2017
E
Satterstrom2020
E
Zhou2022
G
E
WDR37
SSC09929
chr10:
1118115-1118115
G
A
exonic
De novo
nonsynonymous SNV
NM_014023
c.G20A
p.S7N
15.62
-
Fu2022
E
Lim2017
E
Trost2022
G
WDR37
1-0350-003
chr10:
1172229-1172230
CC
GT
intronic
De novo
-
-
Trost2022
G
WDR37
2-0244-004
chr10:
1140858-1140858
A
G
intronic
De novo
-
-
Trost2022
G
WDR37
MSSNG00334-004
chr10:
1172161-1172161
C
A
intronic
De novo
-
-
Trost2022
G
WDR37
AU2137304
chr10:
1112352-1112352
A
G
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
WDR37
AU003403
chr10:
1153019-1153019
T
G
intronic
De novo
-
-
Yuen2017
G
WDR37
AU046904
chr10:
1181491-1181491
G
A
intergenic
De novo
-
-
Yuen2017
G
WDR37
12449.p1
chr10:
1169044-1169044
C
G
intronic
De novo
-
-
Turner2016
G
WDR37
AU3858303
chr10:
1181108-1181108
A
G
intergenic
De novo
-
-
Yuen2017
G
WDR37
AU2022302
chr10:
1131597-1131597
C
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
WDR37
D4S2Z-01
chr10:
1114169-1114169
C
T
intronic
De novo
-
-
Trost2022
G
WDR37
2-0298-003
chr10:
1196678-1196678
C
T
intergenic
De novo
-
-
Yuen2017
G
WDR37
1-0161-004
chr10:
1140848-1140848
A
GCATGGAGAGGGGAGAGTTAGACTGGGAAACGTGAGGTAATGGG
intronic
De novo
-
-
Trost2022
G
WDR37
5-5203-003
chr10:
1102633-1102633
G
A
upstream
De novo
-
-
Trost2022
G
Trost2022
G
WDR37
AU002406
chr10:
1191298-1191298
C
T
intergenic
De 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 notes
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