or
or
Exact

Results for "ZNF827"

Variant Events: 21

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
ZNF827     150474chr4:
146682291-146682291
CTUTR3De novo-8.135E-5Satterstrom2020 E
ZNF827     Codina-Sola2015:ASD_24chr4:
146791440-146791440
ATexonicMaternalnonsynonymous SNVNM_001306215
NM_178835
c.T1938A
c.T1938A
p.D646E
p.D646E
23.81.648E-5Codina-Sola2015 E
ZNF827     AU3787303chr4:
146849785-146849785
AGintronicDe novo--Yuen2017 G
ZNF827     1-0353-003chr4:
146705222-146705222
CTintronicDe novo--Yuen2017 G
ZNF827     1-0435-003chr4:
146953588-146953588
ATintergenicDe novo--Yuen2017 G
ZNF827     AU3857301chr4:
146850134-146850134
CAintronicDe novo--Yuen2017 G
ZNF827     2-1337-003chr4:
146699605-146699605
ATintronicDe novo--Yuen2017 G
ZNF827     AU3900301chr4:
146977138-146977138
TCintergenicDe novo--Yuen2017 G
ZNF827     1-0531-003chr4:
147026305-147026305
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
ZNF827     AU059903chr4:
146829973-146829973
AGintronicDe novo--Yuen2017 G
ZNF827     AU2333302chr4:
146793722-146793722
ATintronicDe novo--Yuen2017 G
ZNF827     7-0197-003chr4:
146980200-146980200
CTintergenicDe novo--Yuen2017 G
ZNF827     AU072004chr4:
146762757-146762757
AGintronicDe novo--Yuen2017 G
ZNF827     AU3399302chr4:
146774512-146774512
TGintronicDe novo--Yuen2017 G
ZNF827     13298.p1chr4:
147008400-147008400
GAintergenicDe novo--Turner2016 G
ZNF827     133343chr4:
146823899-146823899
CTexonicnonsynonymous SNVNM_001306215
NM_178835
c.G512A
c.G512A
p.R171K
p.R171K
28.9-Woodbury-Smith2022 E
ZNF827     AU045512chr4:
146863892-146863892
ATintergenicDe novo--Yuen2017 G
ZNF827     74-0450chr4:
146824346-146824346
GAexonicInheritednonsynonymous SNVNM_001306215
NM_178835
c.C65T
c.C65T
p.A22V
p.A22V
8.2116.105E-5Patowary2019 E
ZNF827     1-0019-004chr4:
146798493-146798493
TCintronicDe novo--Yuen2017 G
ZNF827     AU056204chr4:
146788279-146788279
CGintronicDe novo--Yuen2017 G
ZNF827     13629.p1chr4:
146729028-146729028
TCintronicDe novo--Wilfert2021 G
Source Variant Information

, -

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
More