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Results for "CAMSAP1"

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
CAMSAP1     11224.p1chr9:
138758402-138758402
CTintronicDe novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
CAMSAP1     12778.p1chr9:
138774816-138774816
CTexonicDe novononsynonymous SNVNM_015447c.G269Ap.R90H28.3-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
CAMSAP1     1-0972-003chr9:
138705328-138705328
GCintronicDe novo--Yuen2017 G
CAMSAP1     7-0273-003chr9:
138746274-138746274
ATintronicDe novo--Yuen2017 G
CAMSAP1     1-0323-003chr9:
138823077-138823077
CTintergenicDe novo--Yuen2017 G
CAMSAP1     2-0057-003chr9:
138813127-138813129
CCTCintergenicDe novo--Yuen2017 G
CAMSAP1     ASDFI_1685chr9:
138715142-138715142
GAintronicDe novo--Satterstrom2020 E
CAMSAP1     AU4410302chr9:
138817445-138817445
GAintergenicDe novo--Yuen2017 G
CAMSAP1     SSC02500chr9:
138713882-138713882
TCexonicDe novosynonymous SNVNM_015447c.A2625Gp.A875A-1.676E-5Lim2017 E
CAMSAP1     11363.p1chr9:
138713882-138713882
TCexonicDe novosynonymous SNVNM_015447c.A2625Gp.A875A-1.676E-5Krumm2015 E
CAMSAP1     2-1206-003chr9:
138718663-138718663
CTintronicDe novo--Yuen2016 G
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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