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Exact

Results for "EXD1"

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
EXD1     AU2988303chr15:
41502670-41502670
GAintronicDe novo--Yuen2017 G
EXD1     AU2988302chr15:
41502670-41502670
GAintronicDe novo--Yuen2017 G
EXD1     12618.p1chr15:
41507930-41507930
CAintronicMosaic--Dou2017 E
EXD1     1-0541-004chr15:
41498655-41498655
CCAGintronicDe novo--Yuen2017 G
EXD1     A31chr15:
41522941-41522941
CTUTR5De novo--Wu2018 G
EXD1     iHART2424chr15:
41483774-41483775
CACexonicMaternalframeshift deletionNM_152596
NM_001286441
c.555delT
c.729delT
p.D185fs
p.D243fs
--Ruzzo2019 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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