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Results for "CNNM4"

Variant Events: 8

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
CNNM4     7-0266-003chr2:
97432704-97432718
AGAGTTTGGGGCCTTAintronicDe novo--Trost2022 G
CNNM4     AU221Achr2:
97464939-97464939
CTexonicDe novosynonymous SNVNM_020184c.C1827Tp.A609A-1.648E-5DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
CNNM4     SP0074752chr2:
97474500-97474500
TCintronicDe novo--Trost2022 G
CNNM4     7-0266-003chr2:
97432694-97432694
ACintronicDe novo--Trost2022 G
CNNM4     AU0255-0202chr2:
97428007-97428007
TCexonicDe novononsynonymous SNVNM_020184c.T1271Cp.V424A16.39-Fu2022 E
CNNM4     SP0014738chr2:
97427815-97427815
AGexonicnonsynonymous SNVNM_020184c.A1079Gp.N360S18.078.239E-6Zhou2022 GE
CNNM4     AU3586303chr2:
97478165-97478165
GCdownstreamDe novo--Trost2022 G
Yuen2017 G
CNNM4     SP0014703chr2:
97427815-97427815
AGexonicDe novononsynonymous SNVNM_020184c.A1079Gp.N360S18.078.239E-6Fu2022 E
Trost2022 G
Zhou2022 GE
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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