Variant Results

or

Results for "GRM5"

Variant Events: 37

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

GRM5

AU4186302

chr11:
88452831-88452836

ATAATT

ATAATTAATT

intronic

De novo

-

Yuen2017 G

GRM5

1-0559-003

chr11:
88418398-88418398

C

T

intronic

De novo

-

Yuen2017 G

GRM5

AU3605303

chr11:
88424226-88424226

C

T

intronic

De novo

-

Yuen2017 G

GRM5

AU1725302

chr11:
88769473-88769473

A

C

intronic

De novo

-

Yuen2017 G

GRM5

1-0985-003

chr11:
88604073-88604089

AAATAATAATAATAATA

AAATAATAATAATA

intronic

De novo

-

Yuen2017 G

GRM5

1-0215-006

chr11:
88484546-88484546

A

G

intronic

De novo

-

Yuen2017 G

GRM5

2-1290-004

chr11:
88534080-88534080

G

C

intronic

De novo

-

Yuen2017 G

GRM5

2-1461-003

chr11:
88904305-88904305

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

GRM5

AU3727302

chr11:
88313914-88313914

C

T

intronic

De novo

-

Yuen2017 G

GRM5

AU3777301

chr11:
88681104-88681104

G

A

intronic

De novo

-

Yuen2017 G

GRM5

2-1330-003

chr11:
88536503-88536503

G

T

intronic

De novo

-

Yuen2017 G

GRM5

AU0636303

chr11:
88620494-88620494

C

T

intronic

De novo

-

Yuen2017 G

GRM5

AU4423303

chr11:
88815870-88815876

TCTACTA

TCTA

intergenic

De novo

-

Yuen2017 G

GRM5

AU4263304

chr11:
88370800-88370800

A

C

intronic

De novo

-

Yuen2017 G

GRM5

1-0447-003

chr11:
88397378-88397378

A

G

intronic

De novo

-

Yuen2017 G

GRM5

2-1382-003

chr11:
88415917-88415917

G

A

intronic

De novo

-

Yuen2017 G

GRM5

1-0296-004

chr11:
88463098-88463098

C

CAACAT

intronic

De novo

-

Yuen2017 G

GRM5

2-1138-003

chr11:
88816695-88816695

G

A

intergenic

De novo

-

Yuen2017 G

GRM5

1-0402-004

chr11:
88348584-88348584

T

A

intronic

De novo

-

Yuen2017 G

GRM5

3-0469-000

chr11:
88661267-88661267

G

C

intronic

De novo

-

Yuen2017 G

GRM5

1-0488-003

chr11:
88730427-88730427

G

A

intronic

De novo

-

Yuen2017 G

GRM5

AU0780301

chr11:
88542268-88542268

A

G

intronic

De novo

-

Yuen2017 G

GRM5

1-0269-005

chr11:
88403022-88403022

C

T

intronic

De novo

-

Yuen2017 G

GRM5

1-0277-003

chr11:
88272650-88272650

T

C

intronic

De novo

-

Yuen2017 G

GRM5

SSC05996

chr11:
88300812-88300815

ATCT

A

exonic

De novo

nonframeshift deletion

NM_001143831
NM_000842

c.2036_2038del
c.2036_2038del

p.679_680del
p.679_680del

-

Fu2022 E

GRM5

7-0095-004

chr11:
88290919-88290919

C

CTTT

intronic

De novo

-

Yuen2017 G

GRM5

12529.p1

Complex Event; expand row to view variants

De novo

nonframeshift deletion

NM_001143831
NM_000842
NM_001143831
NM_000842

c.2036_2038del
c.2036_2038del
c.2035_2037del
c.2035_2037del

p.679_680del
p.679_680del
p.679_679del
p.679_679del

-

Dong2014 E
Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
O’Roak2014 T
Satterstrom2020 E
Turner2016 G

GRM5

2-1522-003

chr11:
88592036-88592036

G

C

intronic

De novo

-

Yuen2017 G

GRM5

A31

chr11:
88522897-88522897

C

T

intronic

De novo

-

Wu2018 G

GRM5

1-0440-003

chr11:
88456241-88456241

C

G

intronic

De novo

-

Yuen2017 G

GRM5

2-1522-003

chr11:
88492727-88492727

G

A

intronic

De novo

-

Yuen2017 G

GRM5

1-0546-003

chr11:
88719561-88719561

T

C

intronic

De novo

-

Yuen2017 G

GRM5

5-0064-003

chr11:
88522183-88522183

G

A

intronic

De novo

-

Yuen2017 G

GRM5

AU3891302

chr11:
88301208-88301211

TGGG

TGG

intronic

De novo

-

Yuen2017 G

GRM5

3-0482-000

chr11:
88526603-88526603

G

A

intronic

De novo

-

Yuen2017 G

GRM5

5-0103-003

chr11:
88894423-88894431

TTTTATTTA

TTTTA

intergenic

De novo

-

Yuen2017 G

GRM5

12407.p1

chr11:
88653180-88653180

C

T

intronic

Unknown

-

Werling2018 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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