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Results for "CNIH3"

Variant Events: 23

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
CNIH3     2-1380-003 Complex Event; expand row to view variants  De novo--Yuen2016 G
Yuen2016 G
Yuen2017 G
Yuen2017 G
CNIH3     1-0274-003chr1:
224818651-224818651
AGintronicDe novo--Trost2022 G
Yuen2017 G
CNIH3     1-0339-004chr1:
224894569-224894569
CTintronicDe novo--Trost2022 G
Yuen2017 G
CNIH3     1-0347-003chr1:
224820763-224820763
CGintronicDe novo--Trost2022 G
Yuen2017 G
CNIH3     1-0372-003chr1:
225005801-225005801
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
CNIH3     AU3811305chr1:
224999852-224999852
GAintergenicDe novo--Yuen2017 G
CNIH3     1-0274-004chr1:
224818651-224818651
AGintronicDe novo--Yuen2017 G
CNIH3     1-0591-003chr1:
224989095-224989095
AGintergenicDe novo--Yuen2017 G
CNIH3     AU3874303chr1:
224831232-224831232
GTintronicDe novo--Trost2022 G
Yuen2017 G
CNIH3     2-0300-003chr1:
224976278-224976278
CTintergenicDe novo--Yuen2017 G
CNIH3     AU4122301chr1:
224871121-224871121
GAintronicDe novo--Trost2022 G
Yuen2017 G
CNIH3     AU3263302chr1:
225106105-225106105
AGintergenicDe novo--Yuen2017 G
CNIH3     1-0381-003chr1:
224817934-224817935
CACintronicDe novo--Trost2022 G
Yuen2017 G
CNIH3     5-0009-003chr1:
224893135-224893135
CTintronicDe novo--Trost2022 G
CNIH3     MT_17.3chr1:
224863636-224863636
TGintronicDe novo--Trost2022 G
CNIH3     AU4235302chr1:
224979958-224979958
GTintergenicDe novo--Yuen2017 G
CNIH3     14541.p1chr1:
224935393-224935393
TGintergenicDe novo--Wilfert2021 G
CNIH3     2-1174-006chr1:
224818620-224818620
CTintronicDe novo--Trost2022 G
Yuen2017 G
CNIH3     5-0129-003chr1:
224956259-224956259
CTintergenicDe novo--Yuen2017 G
CNIH3     1-0112-003chr1:
224845635-224845635
AGintronicDe novo--Trost2022 G
CNIH3     1-1111-003chr1:
224858651-224858651
AGintronicDe novo--Trost2022 G
CNIH3     1-0171-005chr1:
224988022-224988022
ACintergenicDe novo--Yuen2017 G
CNIH3     MSSNG00033-005chr1:
224852662-224852662
TAintronicDe novo--Trost2022 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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