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Results for "CLCA4"

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
CLCA4     2-1693-003chr1:
87074996-87074996
GAintergenicDe novo--Yuen2017 G
CLCA4     AU027506chr1:
87082970-87082970
AGintergenicDe novo--Yuen2017 G
CLCA4     AU072004chr1:
87062675-87062675
GAintergenicDe novo--Yuen2017 G
CLCA4     AU4129303chr1:
87064010-87064010
TAintergenicDe novo--Yuen2017 G
CLCA4     2-1362-004chr1:
87029705-87029705
GTintronicDe novo--Yuen2017 G
CLCA4     09C86256chr1:
87043692-87043692
GAexonicDe novononsynonymous SNVNM_012128c.G2059Ap.A687T11.44-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
CLCA4     EGAN00001101206chr1:
87031073-87031073
TAexonicDe novononsynonymous SNVNM_012128c.T674Ap.F225Y16.45-Satterstrom2020 E
CLCA4     AU3716301chr1:
87095050-87095050
GCintergenicDe novo--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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