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Results for "CHRM3"

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
CHRM3     2-1391-004chr1:
240135115-240135115
GGAAAAintergenicDe novo--Yuen2017 G
CHRM3     AU011021chr1:
239906864-239906864
AGintronicDe novo--Yuen2017 G
CHRM3     2-0002-005chr1:
239925289-239925289
GAintronicDe novo--Yuen2017 G
CHRM3     2-1526-003chr1:
240135144-240135144
GGAAAAACAAAintergenicDe novo--Yuen2017 G
CHRM3     DEASD_0050_001chr1:
240072255-240072255
AGexonicDe novononsynonymous SNVNM_000740c.A1504Gp.I502V14.25-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
CHRM3     1-0274-004chr1:
240135093-240135093
TCintergenicDe novo--Yuen2017 G
CHRM3     1-0652-004chr1:
240135101-240135101
TCintergenicDe novo--Yuen2017 G
CHRM3     AU061104chr1:
239863543-239863543
CAintronicDe novo--Yuen2017 G
CHRM3     14480.p1chr1:
240136378-240136378
GAintergenicMosaic--Dou2017 E
CHRM3     1-0417-003chr1:
240045785-240045785
GAintronicDe novo--Yuen2016 G
Yuen2017 G
CHRM3     1-0551-003chr1:
240027355-240027355
ACintronicDe novo--Yuen2017 G
CHRM3     2-0244-003chr1:
240005826-240005826
TGintronicDe novo--Yuen2017 G
CHRM3     5-0065-003chr1:
240135101-240135101
TCintergenicDe novo--Yuen2017 G
CHRM3     1-0296-003chr1:
240135043-240135043
GCintergenicDe novo--Yuen2017 G
CHRM3     A8chr1:
240072174-240072174
ATexonicDe novononsynonymous SNVNM_000740c.A1423Tp.I475F21.6-Wu2018 G
CHRM3     1-0079-008chr1:
240006140-240006140
AGintronicDe novo--Yuen2017 G
CHRM3     1-0593-003chr1:
240010659-240010659
GTintronicDe novo--Yuen2017 G
CHRM3     1-0593-003chr1:
239988118-239988118
TCintronicDe novo--Yuen2017 G
CHRM3     AU3997301chr1:
239792157-239792157
GAupstreamDe novo--Yuen2017 G
CHRM3     2-1120-003chr1:
240060460-240060460
GAintronicDe novo--Yuen2017 G
CHRM3     Li2017:23215chr1:
240072513-240072513
CTexonicUnknownstopgainNM_000740c.C1762Tp.Q588X42.09.015E-6Li2017 T
CHRM3     1-0551-004chr1:
240027355-240027355
ACintronicDe novo--Yuen2017 G
CHRM3     A004chr1:
240072174-240072174
ATexonicDe novononsynonymous SNVNM_000740c.A1423Tp.I475F21.6-Li2017 T
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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