Variant Results

or

Results for "GRM7"

Variant Events: 76

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

GRM7

AU4237302

chr3:
7239411-7239413

AGG

AG

intronic

De novo

-

Yuen2017 G

GRM7

2-1188-003

chr3:
7333041-7333041

T

C

intronic

De novo

-

Yuen2017 G

GRM7

1-0006-003

chr3:
7417196-7417196

T

G

intronic

De novo

-

Yuen2017 G

GRM7

2-1366-004

chr3:
6969394-6969394

A

T

intronic

De novo

-

Yuen2017 G

GRM7

7-0179-003

chr3:
7466892-7466892

G

A

intronic

De novo

-

Yuen2017 G

GRM7

AU3649305

chr3:
7905936-7905936

T

C

intergenic

De novo

-

Yuen2017 G

GRM7

AU3076302

chr3:
7524321-7524321

T

C

intronic

De novo

-

Yuen2017 G

GRM7

EGAN00001101089

chr3:
7620302-7620302

A

G

exonic

De novo

nonsynonymous SNV

NM_000844
NM_181874

c.A1709G
c.A1709G

p.N570S
p.N570S

12.64

4.0E-4

Fu2022 E
Satterstrom2020 E

GRM7

5-0025-003

chr3:
7886298-7886298

G

A

intergenic

De novo

-

Yuen2017 G

GRM7

AU4197301

chr3:
7063798-7063798

G

A

intronic

De novo

-

Yuen2017 G

GRM7

1-0010-005

chr3:
7131328-7131330

CAT

C

intronic

De novo

-

Yuen2017 G

GRM7

2-1295-003

chr3:
7897155-7897155

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

GRM7

2-1460-003

chr3:
7012947-7012947

G

A

intronic

De novo

-

Yuen2017 G

GRM7

AU050604

chr3:
7934989-7934990

GC

GCC

intergenic

De novo

-

Yuen2017 G

GRM7

2-1358-003

chr3:
7488767-7488767

G

A

intronic

De novo

-

Yuen2017 G

GRM7

2-1295-003

chr3:
6988993-6988993

A

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

GRM7

AU012804

chr3:
7154375-7154375

C

G

intronic

De novo

-

Yuen2017 G

GRM7

7-0248-003

chr3:
7092209-7092212

GTTT

GTT

intronic

De novo

-

Yuen2017 G

GRM7

1-0067-005

chr3:
7609936-7609936

T

TTA

intronic

De novo

-

Yuen2017 G

GRM7

2-1189-003

chr3:
7658588-7658588

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

GRM7

1-0402-003

chr3:
7843870-7843870

G

C

intergenic

De novo

-

Yuen2017 G

GRM7

AU4228301

chr3:
7296458-7296458

C

T

intronic

De novo

-

Yuen2017 G

GRM7

AU2075301

chr3:
7511523-7511523

A

G

intronic

De novo

-

Yuen2017 G

GRM7

14015.p1

chr3:
7559106-7559106

G

A

intronic

De novo

-

Turner2016 G

GRM7

AU2137304

chr3:
7623073-7623073

G

C

intronic

De novo

-

Yuen2017 G

GRM7

1-0067-004

chr3:
7609936-7609936

T

TTATATTAGACTTGATATATTATATCAAGAATTA

intronic

De novo

-

Yuen2017 G

GRM7

5-0088-003

chr3:
7351446-7351446

C

T

intronic

De novo

-

Yuen2017 G

GRM7

AU017304

chr3:
7947591-7947591

A

T

intergenic

De novo

-

Yuen2017 G

GRM7

09C81990

chr3:
7340438-7340438

T

C

exonic

De novo

synonymous SNV

NM_000844
NM_181874

c.T804C
c.T804C

p.D268D
p.D268D

-

Fu2022 E
Satterstrom2020 E

GRM7

11470.p1

chr3:
7620458-7620458

G

A

exonic

De novo

nonsynonymous SNV

NM_000844
NM_181874

c.G1865A
c.G1865A

p.R622Q
p.R622Q

24.5

8.238E-6

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Sanders2012 E
Satterstrom2020 E
Wilfert2021 G

GRM7

1-0455-004

chr3:
7116489-7116489

T

C

intronic

De novo

-

Yuen2017 G

GRM7

2-0503-004

chr3:
7091337-7091337

C

T

intronic

De novo

-

Yuen2017 G

GRM7

2-1132-003

chr3:
7581316-7581316

C

T

intronic

De novo

-

Yuen2017 G

GRM7

1-0332-003

chr3:
7497127-7497127

C

T

intronic

De novo

-

Yuen2017 G

GRM7

1-0142-005

chr3:
7599786-7599786

G

GC

intronic

De novo

-

Yuen2017 G

GRM7

2-0012-003

chr3:
7619576-7619576

C

A

intronic

De novo

-

Yuen2017 G

GRM7

SSC02938

chr3:
7620458-7620458

G

A

exonic

De novo

nonsynonymous SNV

NM_000844
NM_181874

c.G1865A
c.G1865A

p.R622Q
p.R622Q

24.5

8.238E-6

Fu2022 E
Lim2017 E

GRM7

1-0868-003

chr3:
7540523-7540523

C

T

intronic

De novo

-

Yuen2017 G

GRM7

1-0186-004

chr3:
6865394-6865394

G

A

intergenic

De novo

-

Yuen2017 G

GRM7

2-1140-003

chr3:
7340438-7340438

T

C

exonic

De novo

synonymous SNV

NM_000844
NM_181874

c.T804C
c.T804C

p.D268D
p.D268D

-

Yuen2017 G

GRM7

AU076705

chr3:
7618529-7618529

G

A

intronic

De novo

-

Yuen2017 G

GRM7

AU4234303

chr3:
6868461-6868461

G

A

intergenic

De novo

-

Yuen2017 G

GRM7

AU4234303

chr3:
6868466-6868466

C

A

intergenic

De novo

-

Yuen2017 G

GRM7

1-0158-012

chr3:
7715519-7715525

ACATGTT

A

intronic

De novo

-

Yuen2017 G

GRM7

7-0130-003

chr3:
7599786-7599786

G

GC

intronic

De novo

-

Yuen2017 G

GRM7

AU3889305

chr3:
7147598-7147607

ACTTTCTTTC

ACTTTC

intronic

De novo

-

Yuen2017 G

GRM7

7-0127-003

chr3:
7698172-7698172

G

GACTC

intronic

De novo

-

Yuen2017 G

GRM7

1-0292-005

chr3:
7735435-7735435

T

C

intronic

De novo

-

Yuen2017 G

GRM7

1-0744-003

chr3:
7195205-7195205

A

G

intronic

De novo

-

Yuen2017 G

GRM7

1-0985-003

chr3:
7174235-7174235

G

A

intronic

De novo

-

Yuen2017 G

GRM7

2-0503-003

chr3:
7091337-7091337

C

T

intronic

De novo

-

Yuen2017 G

GRM7

2-1497-003

chr3:
7054417-7054417

T

A

intronic

De novo

-

Yuen2017 G

GRM7

1-0826-004

chr3:
7586696-7586696

A

G

intronic

De novo

-

Yuen2017 G

GRM7

1-0219-003

chr3:
7365306-7365306

A

T

intronic

De novo

-

Yuen2017 G

GRM7

2-1715-003

chr3:
7614334-7614334

A

G

intronic

De novo

-

Yuen2017 G

GRM7

1-1000-003

chr3:
7132370-7132370

T

A

intronic

De novo

-

Yuen2017 G

GRM7

1-0772-003

chr3:
7473689-7473689

A

T

intronic

De novo

-

Yuen2017 G

GRM7

5-0087-003

chr3:
7141550-7141550

T

C

intronic

De novo

-

Yuen2017 G

GRM7

1-0459-004

chr3:
7599786-7599786

G

GC

intronic

De novo

-

Yuen2017 G

GRM7

1-0414-005

chr3:
7614334-7614334

A

G

intronic

De novo

-

Yuen2017 G

GRM7

1-0278-003

chr3:
7465092-7465092

T

C

intronic

De novo

-

Yuen2016 G

GRM7

1-0269-003

chr3:
7899864-7899865

AT

A

intergenic

De novo

-

Yuen2017 G

GRM7

2-0305-003

chr3:
7226749-7226749

G

A

intronic

De novo

-

Yuen2017 G

GRM7

AU058104

chr3:
6914152-6914152

G

A

intronic

De novo

-

Yuen2017 G

GRM7

GEA347

chr3:
7620870-7620870

C

T

exonic

De novo

synonymous SNV

NM_000844
NM_181874

c.C2277T
c.C2277T

p.S759S
p.S759S

-

Fu2022 E

GRM7

2-1153-003

chr3:
7719766-7719766

G

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

GRM7

1-0509-003

chr3:
7937943-7937943

A

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

GRM7

AU073006

chr3:
6897513-6897513

T

C

intergenic

De novo

-

Yuen2017 G

GRM7

AU3638302

chr3:
7982470-7982470

T

C

intergenic

De novo

-

Yuen2017 G

GRM7

2-0319-003

chr3:
7733418-7733418

G

A

intronic

De novo

-

Yuen2017 G

GRM7

2-1336-003

chr3:
7060405-7060405

A

T

intronic

De novo

-

Yuen2017 G

GRM7

2-0135-003

chr3:
7240320-7240320

T

G

intronic

De novo

-

Yuen2017 G

GRM7

2-1277-003

chr3:
7810951-7810951

C

T

intergenic

De novo

-

Yuen2017 G

GRM7

1-0661-003

chr3:
7148276-7148276

C

A

intronic

De novo

-

Yuen2017 G

GRM7

1-0863-003

chr3:
7881392-7881397

TAACAA

TAA

intergenic

De novo

-

Yuen2017 G

GRM7

7-0151-003

chr3:
7776931-7776931

G

A

intronic

De novo

-

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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