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Results for "CD1A"

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
CD1A     A16chr1:
158241331-158241331
AGintergenicDe novo--Wu2018 G
CD1A     iHART2899chr1:
158226648-158226648
CGexonicPaternalstopgainNM_001763c.C677Gp.S226X40.0-Ruzzo2019 G
CD1A     iHART2901chr1:
158226648-158226648
CGexonicPaternalstopgainNM_001763c.C677Gp.S226X40.0-Ruzzo2019 G
CD1A     AU06304chr1:
158226779-158226779
GAexonicDe novononsynonymous SNVNM_001763c.G808Ap.A270T8.7482.472E-5DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
CD1A     iHART2934chr1:
158226629-158226629
CTexonicMaternalstopgainNM_001763c.C658Tp.Q220X28.83.0E-4Ruzzo2019 G
CD1A     1-0007-003chr1:
158255808-158255822
ATCTCTCTCTCTCTCATCTCTCTCTCTCintergenicDe novo--Yuen2017 G
CD1A     iHART2902chr1:
158226648-158226648
CGexonicPaternalstopgainNM_001763c.C677Gp.S226X40.0-Ruzzo2019 G
CD1A     iHART2903chr1:
158226648-158226648
CGexonicPaternalstopgainNM_001763c.C677Gp.S226X40.0-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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