Variant Results

or

Results for "GRM1"

Variant Events: 54

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

GRM1

1-0153-004

chr6:
146457736-146457736

T

G

intronic

De novo

-

Yuen2017 G

GRM1

AU4306302

chr6:
146730983-146730983

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRM1

AU045514

chr6:
146823840-146823840

G

A

intergenic

De novo

-

Yuen2017 G

GRM1

SP0005613

chr6:
146720700-146720700

C

T

exonic

De novo

nonsynonymous SNV

NM_001278064
NM_001278066
NM_001278067
NM_001278065

c.C2525T
c.C2525T
c.C2525T
c.C2525T

p.P842L
p.P842L
p.P842L
p.P842L

21.4

-

Fu2022 E
Trost2022 G
Zhou2022 GE

GRM1

SP0120937

chr6:
146678716-146678716

C

T

exonic

De novo

synonymous SNV

NM_001278064
NM_001278066
NM_001278067
NM_001278065

c.C1488T
c.C1488T
c.C1488T
c.C1488T

p.H496H
p.H496H
p.H496H
p.H496H

-

5.769E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

GRM1

SP0095648

chr6:
146350741-146350741

G

T

exonic

De novo

nonsynonymous SNV

NM_001278064
NM_001278066
NM_001278067
NM_001278065

c.G88T
c.G88T
c.G88T
c.G88T

p.A30S
p.A30S
p.A30S
p.A30S

9.974

-

Fu2022 E
Trost2022 G
Zhou2022 GE

GRM1

1-0751-003

chr6:
146841607-146841607

G

A

intergenic

De novo

-

Yuen2017 G

GRM1

2-0022-003

chr6:
146591349-146591349

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRM1

11194.p1

chr6:
146561165-146561165

C

G

intronic

De novo

-

Turner2016 G

GRM1

AU075703

chr6:
146646944-146646944

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRM1

1-0271-003

chr6:
146410631-146410631

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRM1

1-0162-004

chr6:
146629792-146629792

C

T

intronic

De novo

-

Yuen2017 G

GRM1

3-0140-000

chr6:
146631286-146631286

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRM1

1-0394-003

chr6:
146567028-146567028

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRM1

1-0757-003

chr6:
146648316-146648316

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRM1

2-1076-004

chr6:
146482137-146482138

TA

T

intronic

De novo

-

Trost2022 G

GRM1

3-0666-001

chr6:
146484885-146484885

T

C

intronic

De novo

-

Trost2022 G

GRM1

2-1787-003

chr6:
146443035-146443035

G

A

intronic

De novo

-

Trost2022 G

GRM1

MSSNG00252-003

chr6:
146468638-146468638

G

A

intronic

De novo

-

Trost2022 G

GRM1

2-1688-003

chr6:
146428009-146428009

G

T

intronic

De novo

-

Trost2022 G

GRM1

3-0029-000

chr6:
146432787-146432787

G

T

intronic

De novo

-

Trost2022 G

GRM1

AU2320301

chr6:
146379190-146379190

G

A

intronic

De novo

-

Trost2022 G

GRM1

AU3371305

chr6:
146665065-146665065

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRM1

1-0402-003

chr6:
146501065-146501066

TC

GT

intronic

De novo

-

Trost2022 G

GRM1

1-0305-004

chr6:
146501073-146501073

T

A

intronic

De novo

-

Trost2022 G

GRM1

1-0305-004

chr6:
146501057-146501060

TGCT

CA

intronic

De novo

-

Trost2022 G

GRM1

1-0402-003

chr6:
146501057-146501060

TGCT

CA

intronic

De novo

-

Trost2022 G

GRM1

7-0219-003

chr6:
146477520-146477520

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRM1

1-0402-003

chr6:
146501049-146501049

A

G

intronic

De novo

-

Trost2022 G

GRM1

2-1562-004

chr6:
146736233-146736233

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRM1

1-0402-003

chr6:
146501052-146501052

A

T

intronic

De novo

-

Trost2022 G

GRM1

1045

chr6:
146488012-146488012

G

A

intronic

De novo

-

Trost2022 G

GRM1

AU3371305

chr6:
146661585-146661585

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRM1

5-0058-003

chr6:
146488893-146488893

G

A

intronic

De novo

-

Trost2022 G

GRM1

5-0022-003

chr6:
146692679-146692679

G

T

intronic

De novo

-

Trost2022 G

GRM1

2-1186-003

chr6:
146675581-146675581

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRM1

MSSNG00341-004

chr6:
146702974-146702974

T

C

intronic

De novo

-

Trost2022 G

GRM1

7-0286-004A

chr6:
146647476-146647476

T

C

intronic

De novo

-

Trost2022 G

GRM1

2-1186-003

chr6:
146654049-146654049

C

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

GRM1

REACH000751

chr6:
146684009-146684009

T

C

intronic

De novo

-

Trost2022 G

GRM1

AU2951303

chr6:
146355872-146355872

C

A

intronic

De novo

-

Yuen2017 G

GRM1

133350

chr6:
146708134-146708134

C

T

exonic

nonsynonymous SNV

NM_001278064
NM_001278066
NM_001278067
NM_001278065

c.C1711T
c.C1711T
c.C1711T
c.C1711T

p.P571S
p.P571S
p.P571S
p.P571S

25.4

-

Woodbury-Smith2022 E

GRM1

SJD_49.3

chr6:
146594965-146594965

T

G

intronic

De novo

-

Trost2022 G

GRM1

4-0069-003

chr6:
146615629-146615629

A

C

intronic

De novo

-

Trost2022 G

GRM1

SJD_55.3

chr6:
146534764-146534764

T

C

intronic

De novo

-

Trost2022 G

GRM1

AU2951302

chr6:
146355872-146355872

C

A

intronic

De novo

-

Yuen2017 G

GRM1

3-0621-000A

chr6:
146580191-146580191

G

C

intronic

De novo

-

Trost2022 G

GRM1

mAGRE5277

chr6:
146755804-146755804

G

T

exonic

De novo

nonsynonymous SNV

NM_001278064

c.G3457T

p.D1153Y

27.9

-

Cirnigliaro2023 G

GRM1

5-0065-003

chr6:
146434532-146434532

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRM1

REACH000322

chr6:
146754079-146754079

T

C

intronic

De novo

-

Trost2022 G

GRM1

3-0134-000

chr6:
146369279-146369279

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRM1

5-5046-007

chr6:
146709291-146709291

G

A

intronic

De novo

-

Trost2022 G

GRM1

1-0025-006

chr6:
146719350-146719352

GGT

AAG

intronic

De novo

-

Trost2022 G

GRM1

13143.p1

chr6:
146690730-146690730

G

A

intronic

De novo

-

Wilfert2021 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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