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Results for "ZNF644"
Variant Events: 32
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
ZNF644
7-0095-003
chr1:
91610615-91610615
C
T
intergenic
De novo
-
-
Yuen2017
G
ZNF644
13324.p1
chr1:
91415185-91415185
C
A
intronic
De novo
-
-
Turner2016
G
ZNF644
14642.p1
chr1:
91488139-91488139
T
C
upstream
De novo
-
-
Turner2016
G
ZNF644
2-1371-003
chr1:
91675433-91675433
C
T
intergenic
De novo
-
-
Yuen2016
G
ZNF644
AU3790301
chr1:
91550188-91550188
C
T
intergenic
De novo
-
-
Yuen2017
G
ZNF644
12641.p1
chr1:
91405302-91405302
C
T
exonic
De novo
nonsynonymous SNV
NM_201269
c.G1609A
p.E537K
13.87
-
Iossifov2014
E
Ji2016
E
Kosmicki2017
E
Krupp2017
E
O’Roak2012b
E
Satterstrom2020
E
Trost2022
G
Wilfert2021
G
Zhou2022
G
E
ZNF644
1-0028-003
chr1:
91448235-91448235
A
T
intronic
De novo
-
-
Yuen2017
G
ZNF644
2-0045-003
chr1:
91642700-91642700
C
A
intergenic
De novo
-
-
Yuen2016
G
Yuen2017
G
ZNF644
PN400341
chr1:
91403431-91403431
C
T
exonic
Unknown
nonsynonymous SNV
NM_201269
c.G3299A
p.R1100H
17.57
0.003
Leblond2019
E
ZNF644
1-0636-003
chr1:
91639557-91639557
G
A
intergenic
De novo
-
-
Yuen2017
G
ZNF644
3-0471-000
chr1:
91424255-91424255
C
A
intronic
De novo
-
-
Trost2022
G
ZNF644
1-1134-004
chr1:
91383099-91383099
G
C
intronic
De novo
-
-
Trost2022
G
ZNF644
1-0362-003
chr1:
91458113-91458113
C
A
intronic
De novo
-
-
Trost2022
G
ZNF644
AU2216201
chr1:
91449174-91449174
C
A
intronic
De novo
-
-
Trost2022
G
ZNF644
AU4264302
chr1:
91554805-91554805
T
C
intergenic
De novo
-
-
Yuen2017
G
ZNF644
3-0193-000
chr1:
91478600-91478604
TTCTC
T
intronic
De novo
-
-
Trost2022
G
ZNF644
4-0062-003
chr1:
91474337-91474338
CG
C
intronic
De novo
-
-
Trost2022
G
ZNF644
3-0102-000
chr1:
91438377-91438377
T
C
intronic
De novo
-
-
Trost2022
G
ZNF644
5-5202-003
chr1:
91425611-91425611
T
C
intronic
De novo
-
-
Trost2022
G
ZNF644
SSC05077
chr1:
91447920-91447920
A
T
UTR5
De novo
-
-
Trost2022
G
ZNF644
3-0788-000
chr1:
91446955-91446955
G
C
intronic
De novo
-
-
Trost2022
G
ZNF644
AU4032306
chr1:
91467709-91467709
T
C
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ZNF644
AU0638302
chr1:
91528937-91528937
C
T
intergenic
De novo
-
-
Yuen2017
G
ZNF644
AU3649304
chr1:
91474606-91474606
C
G
intronic
De novo
-
-
Yuen2017
G
ZNF644
12641_p1
chr1:
91405302-91405302
C
T
exonic
De novo
nonsynonymous SNV
NM_201269
c.G1609A
p.E537K
13.87
-
Fu2022
E
ZNF644
2-1561-003
chr1:
91418083-91418083
C
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ZNF644
4-0073-003
chr1:
91487896-91487896
G
A
upstream
De novo
-
-
Trost2022
G
ZNF644
2-1345-003
chr1:
91484421-91484421
A
G
intronic
De novo
-
-
Trost2022
G
Yuen2016
G
Yuen2017
G
ZNF644
AU4223302
chr1:
91388721-91388721
G
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ZNF644
12534.p1
chr1:
91447920-91447920
A
T
UTR5
De novo
-
-
Krumm2015
E
Satterstrom2020
E
ZNF644
AU3634301
chr1:
91468643-91468643
G
C
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ZNF644
PN400379
chr1:
91403431-91403431
C
T
exonic
Unknown
nonsynonymous SNV
NM_201269
c.G3299A
p.R1100H
17.57
0.003
Leblond2019
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 notes
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