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Results for "ZNF43"

Variant Events: 12

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
ZNF43     11265.p1chr19:
22108117-22108119
TGATintergenicDe novo--Werling2018 G
ZNF43     A25chr19:
22022157-22022157
AGintronicDe novo--Wu2018 G
ZNF43     iHART2599chr19:
21991208-21991208
CCCAexonicPaternalframeshift insertionNM_001256651
NM_001256654
NM_001256653
NM_003423
NM_001256650
NM_001256648
NM_001256649
c.1435_1436insTG
c.1435_1436insTG
c.1657_1658insTG
c.1630_1631insTG
c.1612_1613insTG
c.1612_1613insTG
c.1612_1613insTG
p.G479fs
p.G479fs
p.G553fs
p.G544fs
p.G538fs
p.G538fs
p.G538fs
--Ruzzo2019 G
ZNF43     iHART1106chr19:
21990942-21990942
GAexonicPaternalstopgainNM_001256651
NM_001256654
NM_001256653
NM_003423
NM_001256650
NM_001256648
NM_001256649
c.C1702T
c.C1702T
c.C1924T
c.C1897T
c.C1879T
c.C1879T
c.C1879T
p.Q568X
p.Q568X
p.Q642X
p.Q633X
p.Q627X
p.Q627X
p.Q627X
18.654.193E-5Ruzzo2019 G
ZNF43     7-0191-003chr19:
22081579-22081579
CTintergenicDe novo--Yuen2017 G
ZNF43     2-0318-004chr19:
22088851-22088851
TGintergenicDe novo--Yuen2017 G
ZNF43     7-0023-003chr19:
22084947-22084948
TGTintergenicDe novo--Yuen2017 G
ZNF43     14207.p1chr19:
22017252-22017255
ATATAintronicDe novo--Werling2018 G
ZNF43     2-1397-003chr19:
21987656-21987656
GAdownstreamDe novo--Yuen2017 G
ZNF43     7-0222-003chr19:
22059916-22059916
GAintergenicDe novo--Yuen2017 G
ZNF43     3-0392-000chr19:
22059654-22059654
CTintergenicDe novo--Yuen2016 G
ZNF43     3-0482-000chr19:
22144816-22144816
GTintergenicDe 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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