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Results for "ZNF638"

Variant Events: 11

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
ZNF638     1-0119-004chr2:
71605679-71605679
ACintronicDe novo--Yuen2017 G
ZNF638     74-0672chr2:
71650660-71650660
ATexonicInheritednonsynonymous SNVNM_001014972
NM_001252612
NM_001252613
NM_014497
c.A4016T
c.A4016T
c.A4016T
c.A4016T
p.D1339V
p.D1339V
p.D1339V
p.D1339V
0.0551.679E-5Patowary2019 E
ZNF638     2-1154-003chr2:
71563957-71563957
CGintronicDe novo--Yuen2017 G
ZNF638     AU1988302chr2:
71621569-71621569
ATintronicDe novo--Yuen2017 G
ZNF638     AU3889305chr2:
71663549-71663552
CCTTCintergenicDe novo--Yuen2017 G
ZNF638     PN400379chr2:
71633307-71633307
CTexonicUnknownnonsynonymous SNVNM_001014972
NM_001252612
NM_001252613
NM_014497
c.C3050T
c.C3050T
c.C3050T
c.C3050T
p.P1017L
p.P1017L
p.P1017L
p.P1017L
23.83.296E-5Leblond2019 E
ZNF638     2-1129-003chr2:
71661662-71661662
CTintronicDe novo--Yuen2016 G
Yuen2017 G
ZNF638     1-0201-005chr2:
71647666-71647666
CTintronicDe novo--Yuen2017 G
ZNF638     AU3713301chr2:
71594687-71594687
ATintronicDe novo--Yuen2017 G
ZNF638     10C102294chr2:
71635358-71635358
CGexonicDe novononsynonymous SNVNM_001014972
NM_001252612
NM_001252613
NM_014497
c.C3242G
c.C3242G
c.C3242G
c.C3242G
p.P1081R
p.P1081R
p.P1081R
p.P1081R
13.19-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E
ZNF638     DEASD_0396_001chr2:
71649966-71649966
AGexonicDe novononsynonymous SNVNM_001014972
NM_001252612
NM_001252613
NM_014497
c.A3322G
c.A3322G
c.A3322G
c.A3322G
p.I1108V
p.I1108V
p.I1108V
p.I1108V
0.7870.0068DeRubeis2014 E
Kosmicki2017 E
Source Variant Information

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Source:

Paper alias:

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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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