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Results for "CHODL"

Variant Events: 30

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
CHODL     2-1416-004chr21:
19537411-19537411
GCintronicDe novo--Yuen2017 G
CHODL     AU3808304chr21:
19475971-19475971
ATintronicDe novo--Trost2022 G
Yuen2017 G
CHODL     AU3997302chr21:
19632514-19632514
CTintronicDe novo--Trost2022 G
Yuen2017 G
Zhou2022 GE
CHODL     2-1594-003chr21:
19519217-19519217
ACintronicDe novo--Trost2022 G
Yuen2017 G
CHODL     1-1179-003chr21:
19437446-19437446
CGintronicDe novo--Trost2022 G
CHODL     AU066104chr21:
19511325-19511325
TCintronicDe novo--Trost2022 G
Yuen2017 G
CHODL     1-1102-003chr21:
19393298-19393298
TGintronicDe novo--Trost2022 G
CHODL     AU4465303chr21:
19351060-19351060
ACintronicDe novo--Trost2022 G
CHODL     AU004403chr21:
19346028-19346028
CTintronicDe novo--Trost2022 G
CHODL     1-0567-003chr21:
19314892-19314892
ATintronicDe novo--Trost2022 G
Yuen2017 G
CHODL     7-0361-003chr21:
19326043-19326043
ACintronicDe novo--Trost2022 G
CHODL     AU055603chr21:
19295564-19295564
TGintronicDe novo--Trost2022 G
CHODL     3-0113-000chr21:
19618597-19618599
GAAGintronicDe novo--Trost2022 G
CHODL     AU023012chr21:
19603128-19603128
GAintronicDe novo--Trost2022 G
CHODL     AU039305chr21:
19294737-19294737
AGintronicDe novo--Trost2022 G
Yuen2017 G
CHODL     3-0781-000chr21:
19580726-19580726
GAintronicDe novo--Trost2022 G
CHODL     2-1416-003chr21:
19537411-19537411
GCintronicDe novo--Yuen2017 G
CHODL     AU2463301chr21:
19566367-19566367
CTintronicDe novo--Trost2022 G
CHODL     AU3371305chr21:
19541764-19541764
CTintronicDe novo--Trost2022 G
CHODL     AU072504chr21:
19259278-19259278
CAintergenicDe novo--Yuen2017 G
CHODL     2-1416-003Achr21:
19537411-19537411
GCintronicDe novo--Trost2022 G
CHODL     1-0838-003chr21:
19532537-19532537
GCintronicDe novo--Trost2022 G
CHODL     3-0516-000chr21:
19483942-19483942
TGintronicDe novo--Trost2022 G
CHODL     1-0460-003chr21:
19482021-19482021
ATintronicDe novo--Trost2022 G
Yuen2017 G
CHODL     AU3911301chr21:
19300831-19300831
GAintronicDe novo--Trost2022 G
Yuen2017 G
CHODL     A17chr21:
19639688-19639688
TGdownstreamDe novo--Wu2018 G
CHODL     1-0755-003chr21:
19307268-19307268
GTintronicDe novo--Trost2022 G
Yuen2017 G
CHODL     7-0077-003chr21:
19347399-19347399
CTintronicDe novo--Yuen2017 G
CHODL     7-0077-003chr21:
19624876-19624876
GAintronicDe novo--Trost2022 G
Yuen2017 G
CHODL     AU066206chr21:
19636456-19636456
TCintronicDe novo--Trost2022 G
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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