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Results for "ZNF420"

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
ZNF420     2-1174-005Bchr19:
37634896-37634896
ACintergenicDe novo--Yuen2017 G
ZNF420     Lim2017:4904chr19:
37618120-37618120
TCexonicDe novononsynonymous SNVNM_144689c.T227Cp.L76P1.652-Lim2017 E
ZNF420     14557.p1chr19:
37619946-37619946
CTexonicPaternalstopgainNM_144689c.C2053Tp.Q685X14.94-O’Roak2012a T
ZNF420     DEASD_0355_001chr19:
37618055-37618055
GTexonicDe novononsynonymous SNVNM_144689c.G162Tp.K54N11.0-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
ZNF420     AU3858303chr19:
37598370-37598370
CAintronicDe novo--Yuen2017 G
ZNF420     13335.p1chr19:
37618120-37618120
TCexonicDe novo, Mosaicnonsynonymous SNVNM_144689c.T227Cp.L76P1.652-Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
ZNF420     13951.p1chr19:
37619705-37619705
AGexonicDe novosynonymous SNVNM_144689c.A1812Gp.L604L-1.648E-5Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Turner2016 G
ZNF420     5-0042-003chr19:
37578842-37578842
CTintronicDe novo--Yuen2017 G
ZNF420     13951_p1chr19:
37619705-37619705
AGexonicDe novosynonymous SNVNM_144689c.A1812Gp.L604L-1.648E-5Fu2022 E
ZNF420     AU009904chr19:
37614977-37614978
TCTCCintronicDe novo--Yuen2017 G
ZNF420     2-1508-004chr19:
37582887-37582887
TCintronicDe 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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