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Results for "ZNF548"

Variant Events: 9

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
ZNF548     AU3399302chr19:
57900769-57900769
CTupstreamDe novo--Yuen2017 G
ZNF548     Li2017:42chr19:
57911008-57911010
CAGCexonicUnknownframeshift deletionNM_152909
NM_001172773
c.1354_1355del
c.1390_1391del
p.R452fs
p.R464fs
-2.482E-5Li2017 T
ZNF548     AU061003chr19:
57915294-57915294
CTintergenicDe novo--Yuen2017 G
ZNF548     Li2017:18924chr19:
57911008-57911010
CAGCexonicUnknownframeshift deletionNM_152909
NM_001172773
c.1354_1355del
c.1390_1391del
p.R452fs
p.R464fs
-2.482E-5Li2017 T
ZNF548     SP0000117chr19:
57909941-57909941
AATTexonicDe novoframeshift insertionNM_152909
NM_001172773
c.286_287insTT
c.322_323insTT
p.I96fs
p.I108fs
--Feliciano2019 E
ZNF548     Li2017:17649chr19:
57908465-57908465
GAexonicUnknownstopgainNM_152909
NM_001172773
c.G65A
c.G101A
p.W22X
p.W34X
36.0-Li2017 T
ZNF548     A30chr19:
57910972-57910974
TTGTexonicDe novoframeshift deletionNM_152909
NM_001172773
c.1318_1319del
c.1354_1355del
p.W440fs
p.W452fs
--Wu2018 G
ZNF548     A11051-2chr19:
57911008-57911010
CAGCexonicUnknownframeshift deletionNM_152909
NM_001172773
c.1354_1355del
c.1390_1391del
p.R452fs
p.R464fs
-2.482E-5Li2017 T
ZNF548     A25chr19:
57910972-57910974
TTGTexonicDe novoframeshift deletionNM_152909
NM_001172773
c.1318_1319del
c.1354_1355del
p.W440fs
p.W452fs
--Wu2018 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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