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Results for "ZNF644"

Variant Events: 20

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     7-0095-003chr1:
91610615-91610615
CTintergenicDe novo--Yuen2017 G
ZNF644     13324.p1chr1:
91415185-91415185
CAintronicDe novo--Turner2016 G
ZNF644     AU4264302chr1:
91554805-91554805
TCintergenicDe novo--Yuen2017 G
ZNF644     14642.p1chr1:
91488139-91488139
TCupstreamDe novo--Turner2016 G
ZNF644     2-1371-003chr1:
91675433-91675433
CTintergenicDe novo--Yuen2016 G
ZNF644     AU4032306chr1:
91467709-91467709
TCintronicDe novo--Yuen2017 G
ZNF644     AU0638302chr1:
91528937-91528937
CTintergenicDe novo--Yuen2017 G
ZNF644     AU3649304chr1:
91474606-91474606
CGintronicDe novo--Yuen2017 G
ZNF644     2-1561-003chr1:
91418083-91418083
CAintronicDe novo--Yuen2017 G
ZNF644     2-1345-003chr1:
91484421-91484421
AGintronicDe novo--Yuen2016 G
Yuen2017 G
ZNF644     AU3790301chr1:
91550188-91550188
CTintergenicDe novo--Yuen2017 G
ZNF644     AU4223302chr1:
91388721-91388721
GAintronicDe novo--Yuen2017 G
ZNF644     12641.p1chr1:
91405302-91405302
CTexonicDe novononsynonymous SNVNM_201269c.G1609Ap.E537K13.87-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
ZNF644     12534.p1chr1:
91447920-91447920
ATUTR5De novo--Krumm2015 E
Satterstrom2020 E
ZNF644     1-0028-003chr1:
91448235-91448235
ATintronicDe novo--Yuen2017 G
ZNF644     2-0045-003chr1:
91642700-91642700
CAintergenicDe novo--Yuen2016 G
Yuen2017 G
ZNF644     PN400341chr1:
91403431-91403431
CTexonicUnknownnonsynonymous SNVNM_201269c.G3299Ap.R1100H17.570.003Leblond2019 E
ZNF644     AU3634301chr1:
91468643-91468643
GCintronicDe novo--Yuen2017 G
ZNF644     PN400379chr1:
91403431-91403431
CTexonicUnknownnonsynonymous SNVNM_201269c.G3299Ap.R1100H17.570.003Leblond2019 E
ZNF644     1-0636-003chr1:
91639557-91639557
GAintergenicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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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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