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Results for "ZFC3H1"

Variant Events: 7

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
ZFC3H1     2-0158-003chr12:
72005578-72005578
GAexonicDe novononsynonymous SNVNM_144982c.C5717Tp.A1906V31.0-Yuen2017 G
ZFC3H1     7-0249-004chr12:
72030430-72030430
GCexonicDe novononsynonymous SNVNM_144982c.C1940Gp.T647R13.33-Yuen2017 G
ZFC3H1     NDAR_INVRT684RNC_wes1chr12:
72038139-72038139
GAintronicDe novo-8.036E-5Kosmicki2017 E
Satterstrom2020 E
ZFC3H1     08C76035chr12:
72030350-72030350
TCexonicDe novononsynonymous SNVNM_144982c.A2020Gp.S674G21.3-Satterstrom2020 E
ZFC3H1     13352.p1chr12:
72017249-72017249
TCexonicDe novosynonymous SNVNM_144982c.A4635Gp.P1545P--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
ZFC3H1     09C98906chr12:
72004328-72004328
TCexonicDe novosynonymous SNVNM_144982c.A5850Gp.A1950A-8.325E-6DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E
ZFC3H1     Lim2017:70326chr12:
72017249-72017249
TCexonicDe novosynonymous SNVNM_144982c.A4635Gp.P1545P--Lim2017 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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