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Results for "ZNF516"

Variant Events: 28

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
ZNF516     SP0099141chr18:
74153487-74153487
GAexonicDe novosynonymous SNVNM_014643c.C1524Tp.T508T--Fu2022 E
Trost2022 G
Zhou2022 GE
ZNF516     SP0144587chr18:
74153438-74153438
GAexonicDe novononsynonymous SNVNM_014643c.C1573Tp.R525C17.98-Fu2022 E
Trost2022 G
Zhou2022 GE
ZNF516     SP0080328chr18:
74092115-74092115
AGexonicDe novononsynonymous SNVNM_014643c.T1955Cp.I652T4.396-Fu2022 E
Trost2022 G
Zhou2022 GE
ZNF516     SP0105402chr18:
74153726-74153726
CGexonicDe novononsynonymous SNVNM_014643c.G1285Cp.E429Q16.52-Fu2022 E
Zhou2022 GE
ZNF516     2-1237-003chr18:
74120756-74120756
CTintronicDe novo--Trost2022 G
Yuen2017 G
ZNF516     REACH000517chr18:
74145422-74145422
GAintronicDe novo--Trost2022 G
ZNF516     1-0494-003Achr18:
74149517-74149518
CACintronicDe novo--Trost2022 G
ZNF516     5-0077-004chr18:
74116358-74116360
TGAAGTintronicDe novo--Trost2022 G
ZNF516     2-1114-003chr18:
74076644-74076644
CTintronicDe novo--Trost2022 G
Yuen2017 G
ZNF516     MSSNG00341-003chr18:
74129719-74129719
GAintronicDe novo--Trost2022 G
ZNF516     MSSNG00353-004chr18:
74107170-74107170
CGintronicDe novo--Trost2022 G
ZNF516     MSSNG00129-003chr18:
74107803-74107803
TCintronicDe novo--Trost2022 G
ZNF516     7-0183-003chr18:
74097736-74097736
CGintronicDe novo--Trost2022 G
ZNF516     SP0015755chr18:
74200184-74200184
GAintronicDe novo--Trost2022 G
ZNF516     SP0053359chr18:
74202946-74202946
GAintronicDe novo--Trost2022 G
ZNF516     MSSNG00431-003chr18:
74163887-74163887
GAintronicDe novo--Trost2022 G
ZNF516     1-0700-003Achr18:
74170610-74170610
GAintronicDe novo--Trost2022 G
ZNF516     SP0090083chr18:
74153972-74153972
GAexonicDe novosynonymous SNVNM_014643c.C1039Tp.L347L--Trost2022 G
ZNF516     2-1644-003chr18:
74162236-74162236
TTAAintronicDe novo--Trost2022 G
ZNF516     AU004403chr18:
74150686-74150686
TCintronicDe novo--Trost2022 G
ZNF516     1-0018-003chr18:
74152739-74152739
GAintronicDe novo--Trost2022 G
ZNF516     2-1526-004chr18:
74196606-74196606
ATintronicDe novo--Trost2022 G
Yuen2017 G
ZNF516     1-0412-003chr18:
74176718-74176718
TCintronicDe novo--Trost2022 G
Yuen2017 G
ZNF516     AU3808305chr18:
74195143-74195143
CTintronicDe novo--Trost2022 G
Yuen2017 G
ZNF516     SSC08104chr18:
74154934-74154934
ACexonicDe novononsynonymous SNVNM_014643c.T77Gp.V26G2.036-Fu2022 E
ZNF516     2-1429-003chr18:
74113738-74113738
ACintronicDe novo--Yuen2017 G
ZNF516     3-0434-000chr18:
74133606-74133606
GAintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
ZNF516     63-343chr18:
74197922-74197922
GCintronicDe novo--Michaelson2012 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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