Variant Results

or

Results for "ADGRG1"

Variant Events: 20

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

ADGRG1

2-1292-003

chr16:
57678599-57678599

A

AGCACACACACTGATCACACACTCATGCAAGG

intronic

De novo

-

Trost2022 G
Yuen2017 G

ADGRG1

1-0161-004

chr16:
57671263-57671263

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ADGRG1

SP0070933

chr16:
57665082-57665082

C

T

intronic

De novo

-

Fu2022 E
Trost2022 G

ADGRG1

10-1104-003

chr16:
57689372-57689372

C

T

exonic

nonsynonymous SNV

NM_001145773
NM_001290142
NM_001290143
NM_001290144
NM_201525
NM_001145770
NM_001145771
NM_001145772
NM_001145774
NM_005682
NM_201524

c.C845T
c.C320T
c.C305T
c.C305T
c.C830T
c.C830T
c.C830T
c.C830T
c.C830T
c.C830T
c.C830T

p.T282M
p.T107M
p.T102M
p.T102M
p.T277M
p.T277M
p.T277M
p.T277M
p.T277M
p.T277M
p.T277M

10.48

2.0E-4

Zhou2022 GE

ADGRG1

SP0057795

chr16:
57655684-57655684

G

A

intronic

De novo

-

Fu2022 E

ADGRG1

MSSNG00033-003

chr16:
57662719-57662719

C

A

UTR5

De novo

-

Trost2022 G
Zhou2022 GE

ADGRG1

MSSNG00001-003

chr16:
57663618-57663618

C

T

intronic

De novo

-

Trost2022 G

ADGRG1

1-0564-003

chr16:
57668757-57668757

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ADGRG1

SP0047558

chr16:
57669949-57669949

A

AC

intronic

De novo

-

Trost2022 G

ADGRG1

SP0114604

chr16:
57662865-57662865

A

T

intronic

De novo

-

Trost2022 G

ADGRG1

REACH000242

chr16:
57663597-57663597

G

A

intronic

De novo

-

Trost2022 G

ADGRG1

SP0057061

chr16:
57681269-57681269

C

A

intronic

De novo

-

Fu2022 E
Trost2022 G

ADGRG1

SP0135668

chr16:
57662474-57662474

A

AG

UTR5

De novo

-

Trost2022 G

ADGRG1

SP0044826

chr16:
57696846-57696846

G

A

intronic

De novo

-

Trost2022 G

ADGRG1

SP0089919

chr16:
57677962-57677962

G

A

intronic

De novo

-

Trost2022 G

ADGRG1

SP0000406

chr16:
57685044-57685044

C

T

intronic

De novo

-

Fu2022 E

ADGRG1

SP0077463

chr16:
57695140-57695140

A

C

intronic

De novo

-

Trost2022 G

ADGRG1

2-1086-004

chr16:
57671069-57671072

CACT

A

intronic

De novo

-

Trost2022 G

ADGRG1

13188.p1

chr16:
57697480-57697480

T

C

exonic

De novo

nonsynonymous SNV

NM_001145773
NM_001290142
NM_001290143
NM_001290144
NM_201525
NM_001145770
NM_001145771
NM_001145772
NM_001145774
NM_005682
NM_201524

c.T2065C
c.T1558C
c.T1543C
c.T1525C
c.T2050C
c.T2050C
c.T2068C
c.T2050C
c.T2050C
c.T2068C
c.T2050C

p.S689P
p.S520P
p.S515P
p.S509P
p.S684P
p.S684P
p.S690P
p.S684P
p.S684P
p.S690P
p.S684P

14.51

1.678E-5

Ji2016 E
Krumm2015 E

ADGRG1

SP0043752

chr16:
57671652-57671652

G

A

intronic

De novo

-

Trost2022 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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