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Results for "CAT"

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
CAT     13237.p1chr11:
34475373-34475373
GAexonicDe novononsynonymous SNVNM_001752c.G611Ap.G204E23.1-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G
CAT     2-1117-003chr11:
34464303-34464303
GAintronicDe novo--Yuen2017 G
CAT     152-HSC0079chr11:
34475453-34475453
TGexonicInheritednonsynonymous SNVNM_001752c.T691Gp.Y231D17.671.648E-5Patowary2019 E
CAT     5-0088-003chr11:
34488544-34488544
AGintronicDe novo--Yuen2017 G
CAT     1-0010-005chr11:
34475559-34475559
CTintronicDe novo--Yuen2017 G
CAT     2-1644-004chr11:
34478414-34478414
GAintronicDe 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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