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Results for "ABCD4"

Variant Events: 10

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
ABCD4     1-0054-003chr14:
74807386-74807386
AGintergenicDe novo--Yuen2017 G
ABCD4     08C78789chr14:
74759259-74759259
CTexonicDe novosynonymous SNVNM_005050c.G1023Ap.T341T-0.0012DeRubeis2014 E
Kosmicki2017 E
ABCD4     12687.p1chr14:
74766252-74766252
GAexonicMosaicnonsynonymous SNVNM_005050c.C284Tp.T95M12.188.241E-6Dou2017 E
ABCD4     iHART2751chr14:
74763050-74763050
GTexonicPaternalstopgainNM_005050c.C528Ap.Y176X17.81.648E-5Ruzzo2019 G
ABCD4     SP0099911chr14:
74769597-74769597
CTexonicDe novononsynonymous SNVNM_005050c.G19Ap.A7T11.479.272E-6Fu2022 E
ABCD4     SP0127252chr14:
74756243-74756243
CTintronicDe novo--Fu2022 E
ABCD4     SP0076599chr14:
74757052-74757052
CTexonicDe novosynonymous SNVNM_005050c.G1269Ap.T423T8.3511.647E-5Fu2022 E
ABCD4     2-1323-003chr14:
74793586-74793586
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
ABCD4     SP0085522chr14:
74756662-74756662
GAintronicDe novo--Fu2022 E
ABCD4     PN400343chr14:
74753420-74753420
CTexonicUnknownnonsynonymous SNVNM_005050c.G1736Ap.R579Q36.00.0043Leblond2019 E
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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