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Results for "CDKN1C"

Variant Events: 3

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
CDKN1C     SP0125430chr11:
2906433-2906433
TCexonicDe novononsynonymous SNVNM_000076
NM_001122630
NM_001122631
c.A287G
c.A254G
c.A254G
p.Q96R
p.Q85R
p.Q85R
17.65-Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
CDKN1C     SP0113642chr11:
2905822-2905822
CAintronicDe novo--Fu2022 E
CDKN1C     2-1760-003chr11:
2906647-2906647
CTexonicDe novononsynonymous SNVNM_000076
NM_001122630
NM_001122631
c.G73A
c.G40A
c.G40A
p.V25M
p.V14M
p.V14M
11.635.278E-5Trost2022 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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