Variant Results

or

Results for "CHRM3"

Variant Events: 39

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

AU011021

chr1:
239906864-239906864

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CHRM3

2-0002-005

chr1:
239925289-239925289

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CHRM3

1-0274-004

chr1:
240135093-240135093

T

C

intergenic

De novo

-

Yuen2017 G

CHRM3

AU061104

chr1:
239863543-239863543

C

A

intronic

De novo

-

Yuen2017 G

CHRM3

14480.p1

chr1:
240136378-240136378

G

A

intergenic

Mosaic

-

Dou2017 E

CHRM3

1-0551-003

chr1:
240027355-240027355

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CHRM3

2-0244-003

chr1:
240005826-240005826

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CHRM3

5-0065-003

chr1:
240135101-240135101

T

C

intergenic

De novo

-

Yuen2017 G

CHRM3

1-0296-003

chr1:
240135043-240135043

G

C

intergenic

De novo

-

Yuen2017 G

CHRM3

A8

chr1:
240072174-240072174

A

T

exonic

De novo

nonsynonymous SNV

NM_000740

c.A1423T

p.I475F

21.6

-

Wu2018 G

CHRM3

1-0079-008

chr1:
240006140-240006140

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CHRM3

1-0593-003

chr1:
240010659-240010659

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CHRM3

1-0593-003

chr1:
239988118-239988118

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CHRM3

2-1120-003

chr1:
240060460-240060460

G

A

intronic

De novo

-

Yuen2017 G

CHRM3

MSSNG00371-003

chr1:
239858937-239858937

A

G

intronic

De novo

-

Trost2022 G

CHRM3

4-0088-003

chr1:
239841244-239841244

G

A

intronic

De novo

-

Trost2022 G

CHRM3

AU2320301

chr1:
239894495-239894496

TG

T

intronic

De novo

-

Trost2022 G

CHRM3

7-0335-003

chr1:
239891597-239891597

C

T

intronic

De novo

-

Trost2022 G

CHRM3

A004

chr1:
240072174-240072174

A

T

exonic

De novo

nonsynonymous SNV

NM_000740

c.A1423T

p.I475F

21.6

-

Li2017 T

CHRM3

2-0223-003

chr1:
239835789-239835789

G

C

intronic

De novo

-

Trost2022 G

CHRM3

5-5146-003

chr1:
239793480-239793480

T

C

intronic

De novo

-

Trost2022 G

CHRM3

2-1423-003

chr1:
240039322-240039322

A

G

intronic

De novo

-

Trost2022 G

CHRM3

2-1391-004

chr1:
240135115-240135115

G

GAAAA

intergenic

De novo

-

Yuen2017 G

CHRM3

2-0197-004

chr1:
239971754-239971757

TCCT

AGGG

intronic

De novo

-

Trost2022 G

CHRM3

MT_21.3

chr1:
240066380-240066381

GC

G

intronic

De novo

-

Trost2022 G

CHRM3

4-0062-003

chr1:
240052934-240052936

TTC

AAT

intronic

De novo

-

Trost2022 G

CHRM3

2-1526-003

chr1:
240135144-240135144

G

GAAAAACAAA

intergenic

De novo

-

Yuen2017 G

CHRM3

MSSNG00217-003

chr1:
239902309-239902309

A

C

intronic

De novo

-

Trost2022 G

CHRM3

DEASD_0050_001

chr1:
240072255-240072255

A

G

exonic

De novo

nonsynonymous SNV

NM_000740

c.A1504G

p.I502V

14.25

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CHRM3

AU2320301

chr1:
239894499-239894499

T

A

intronic

De novo

-

Trost2022 G

CHRM3

REACH000336

chr1:
239963896-239963896

G

A

intronic

De novo

-

Trost2022 G

CHRM3

AU2622301

chr1:
239920285-239920285

G

A

intronic

De novo

-

Trost2022 G

CHRM3

1-0652-004

chr1:
240135101-240135101

T

C

intergenic

De novo

-

Yuen2017 G

CHRM3

SP0061651

chr1:
240072555-240072555

C

T

UTR3

De novo

-

3.765E-5

Trost2022 G

CHRM3

MT_21.3

chr1:
240066383-240066383

A

T

intronic

De novo

-

Trost2022 G

CHRM3

1-0417-003

chr1:
240045785-240045785

G

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

CHRM3

AU3997301

chr1:
239792157-239792157

G

A

upstream

De novo

-

Yuen2017 G

CHRM3

Li2017:23215

chr1:
240072513-240072513

C

T

exonic

Unknown

stopgain

NM_000740

c.C1762T

p.Q588X

42.0

9.015E-6

Li2017 T

CHRM3

1-0551-004

chr1:
240027355-240027355

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

Source Variant Information

, -

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 notes	View
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