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Results for "CYP26A1"

Variant Events: 17

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
CYP26A1     2-1230-003chr10:
95059701-95059701
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
CYP26A1     1-0049-004chr10:
94924259-94924262
ATATAintergenicDe novo--Yuen2017 G
CYP26A1     7-0192-003chr10:
94909681-94909681
TCintergenicDe novo--Yuen2017 G
CYP26A1     5-0040-003chr10:
95022981-95022981
GGACintergenicDe novo--Yuen2017 G
CYP26A1     Lim2017:36766chr10:
94836446-94836446
AGexonicMosaicnonsynonymous SNVNM_000783
NM_057157
c.A1145G
c.A938G
p.E382G
p.E313G
17.14-Lim2017 E
CYP26A1     3-0246-000chr10:
94843410-94843410
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
CYP26A1     AU2975302chr10:
94992788-94992788
AGintergenicDe novo--Yuen2017 G
CYP26A1     7-0250-003chr10:
95052283-95052321
TTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTintergenicDe novo--Yuen2017 G
CYP26A1     AU031403chr10:
94860223-94860223
CTintergenicDe novo--Yuen2017 G
CYP26A1     5-0131-003chr10:
95048180-95048180
GAintergenicDe novo--Yuen2017 G
CYP26A1     1-0345-003chr10:
94853631-94853631
TCintergenicDe novo--Yuen2017 G
CYP26A1     14496.p1chr10:
94983051-94983051
CAintergenicDe novo--Turner2016 G
CYP26A1     2-0300-003chr10:
94899488-94899488
TCintergenicDe novo--Yuen2017 G
CYP26A1     1-0278-003chr10:
94861879-94861879
TGintergenicDe novo--Yuen2016 G
CYP26A1     14519.p1chr10:
94836446-94836446
AGexonicMosaic, De novononsynonymous SNVNM_000783
NM_057157
c.A1145G
c.A938G
p.E382G
p.E313G
17.14-Ji2016 E
Krumm2015 E
Krupp2017 E
CYP26A1     1-0274-003chr10:
95047977-95047977
CCTintergenicDe novo--Yuen2017 G
CYP26A1     AU073003chr10:
94887160-94887160
CTintergenicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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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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