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Results for "ZNF512"

Variant Events: 5

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
ZNF512     AU054303chr2:
27805721-27805721
CTdownstream;upstreamDe novo--Yuen2017 G
ZNF512     AU4234302chr2:
27808323-27808326
ATTTATTintronicDe novo--Yuen2017 G
ZNF512     1-0458-005chr2:
27822435-27822440
TGTATGTintronicDe novo--Yuen2017 G
ZNF512     A52chr2:
27838059-27838059
CTexonicDe novononsynonymous SNVNM_001271286
NM_001271287
NM_001271288
NM_001271289
NM_032434
NM_001271318
c.C1069T
c.C925T
c.C925T
c.C841T
c.C1156T
c.C925T
p.P357S
p.P309S
p.P309S
p.P281S
p.P386S
p.P309S
25.2-Jiao2019 E
ZNF512     2-1215-003chr2:
27842129-27842129
GAintronicDe 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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