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Results for "CNNM3"

Variant Events: 6

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
CNNM3     SMHC01856s000chr2:
97482646-97482646
TCexonicDe novononsynonymous SNVNM_017623
NM_199078
c.T632C
c.T632C
p.V211A
p.V211A
19.96-Yuan2023 E
CNNM3     10C105646chr2:
97493666-97493666
CGintronicDe novo--Satterstrom2020 E
Trost2022 G
CNNM3     2-1335-004chr2:
97493666-97493666
CGintronicDe novo--Yuen2017 G
CNNM3     mAGRE4312chr2:
97492713-97492714
TCTexonicMaternalframeshift deletionNM_199078
NM_017623
c.1370delC
c.1514delC
p.S457fs
p.S505fs
-8.29E-6Cirnigliaro2023 G
CNNM3     SP0043905chr2:
97497939-97497939
CTintronicDe novo--Fu2022 E
CNNM3     SP0089206chr2:
97494316-97494316
CTexonicDe novononsynonymous SNVNM_199078
NM_017623
c.C1655T
c.C1799T
p.P552L
p.P600L
28.1-Fu2022 E
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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