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Results for "EFCAB7"

Variant Events: 5

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
EFCAB7     2-1148-004chr1:
64039153-64039153
CTdownstreamDe novo--Yuen2017 G
EFCAB7     iHART2665chr1:
63998412-63998413
ATAexonicMaternalframeshift deletionNM_032437c.472delTp.F158fs-1.0E-4Ruzzo2019 G
EFCAB7     2-1362-004chr1:
64054507-64054507
CGintergenicDe novo--Yuen2017 G
EFCAB7     Cukier2014:37425chr1:
64011657-64011657
AGexonicUnknownnonsynonymous SNVNM_032437c.A875Gp.Y292C21.50.0072Cukier2014 E
EFCAB7     AU3399303chr1:
64020687-64020687
CTintronicDe 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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