Variant Results

or

Results for "GRB10"

Variant Events: 43

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

GRB10

2-0242-004

chr7:
50958885-50958885

T

TCA

intergenic

De novo

-

Yuen2017 G

GRB10

1-0286-004

chr7:
50987391-50987391

G

A

intergenic

De novo

-

Yuen2017 G

GRB10

13393.p1

chr7:
50850102-50850102

G

C

intronic

De novo

-

Turner2016 G

GRB10

1-0272-003

chr7:
51063161-51063161

C

T

intergenic

De novo

-

Yuen2017 G

GRB10

2-0197-004

chr7:
50818806-50818806

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRB10

2-1741-003

chr7:
50740772-50740772

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRB10

5-0140-003

chr7:
50937788-50937789

AG

A

intergenic

De novo

-

Yuen2017 G

GRB10

1-0259-003

chr7:
50803683-50803683

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRB10

2-1741-003

chr7:
50720004-50720004

T

A

intronic

De novo

-

Yuen2017 G

GRB10

M17436

chr7:
50673102-50673102

C

T

exonic

Paternal

nonsynonymous SNV

NM_001001549
NM_001001550
NM_005311
NM_001001555

c.G1136A
c.G1100A
c.G1274A
c.G1100A

p.R379H
p.R367H
p.R425H
p.R367H

34.0

-

Guo2018 T
Wang2016 T

GRB10

4-0024-003

chr7:
50723060-50723060

T

A

intronic

De novo

-

Trost2022 G

GRB10

AU056005

chr7:
50745816-50745816

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRB10

SJD_50.3

chr7:
50727806-50727806

G

A

intronic

De novo

-

Trost2022 G

GRB10

MSSNG00399-003

chr7:
50705153-50705153

T

C

intronic

De novo

-

Trost2022 G

GRB10

214-17068-1

chr7:
50663133-50663134

CA

A

splicing

Paternal

splicing

-

Stessman2017 T

GRB10

2-1294-004

chr7:
50705876-50705877

GA

G

intronic

De novo

-

Trost2022 G

GRB10

AU4028302

chr7:
50868838-50868838

T

G

intergenic

De novo

-

Yuen2017 G

GRB10

1-0668-003

chr7:
51042312-51042312

G

A

intergenic

De novo

-

Yuen2017 G

GRB10

2-1456-003

chr7:
50779855-50779855

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRB10

SSC06174

chr7:
50737559-50737559

G

A

exonic

De novo

nonsynonymous SNV

NM_001001549
NM_001001550
NM_005311
NM_001001555

c.C364T
c.C190T
c.C364T
c.C190T

p.R122C
p.R64C
p.R122C
p.R64C

15.06

-

Lim2017 E
Trost2022 G

GRB10

1-1018-003

chr7:
50845759-50845759

T

C

intronic

De novo

-

Trost2022 G

GRB10

261028

chr7:
50737516-50737516

G

A

exonic

Unknown

nonsynonymous SNV

NM_001001549
NM_001001550
NM_005311
NM_001001555

c.C407T
c.C233T
c.C407T
c.C233T

p.P136L
p.P78L
p.P136L
p.P78L

35.0

9.358E-6

Stessman2017 T

GRB10

AU059003

chr7:
50794743-50794743

G

A

intronic

De novo

-

Trost2022 G

GRB10

MSSNG00022-003

chr7:
50794816-50794816

G

A

intronic

De novo

-

Trost2022 G

GRB10

SP0065539

chr7:
50660715-50660715

A

G

exonic

De novo

synonymous SNV

NM_001001549
NM_001001550
NM_005311
NM_001001555

c.T1581C
c.T1545C
c.T1719C
c.T1545C

p.F527F
p.F515F
p.F573F
p.F515F

-

Fu2022 E
Trost2022 G
Zhou2022 GE

GRB10

SP0119775

chr7:
50672013-50672013

C

T

exonic

De novo

nonsynonymous SNV

NM_001001549
NM_001001550
NM_005311
NM_001001555

c.G1313A
c.G1277A
c.G1451A
c.G1277A

p.S438N
p.S426N
p.S484N
p.S426N

11.81

-

Fu2022 E
Trost2022 G
Zhou2022 GE

GRB10

5-0030-003

chr7:
50922607-50922609

CTT

C

intergenic

De novo

-

Yuen2017 G

GRB10

2-1456-004

chr7:
50809707-50809707

C

CA

intronic

De novo

-

Yuen2017 G

GRB10

1-0295-003

chr7:
50905223-50905223

T

G

intergenic

De novo

-

Yuen2017 G

GRB10

SP0083841

chr7:
50686963-50686963

A

C

exonic

De novo

nonsynonymous SNV

NM_001001549
NM_001001550
NM_005311
NM_001001555

c.T681G
c.T507G
c.T681G
c.T507G

p.H227Q
p.H169Q
p.H227Q
p.H169Q

19.41

-

Fu2022 E

GRB10

AU4186302

chr7:
50890479-50890479

G

A

intergenic

De novo

-

Yuen2017 G

GRB10

1-0559-003

chr7:
51005445-51005445

G

A

intergenic

De novo

-

Yuen2017 G

GRB10

12676.p1

chr7:
50737559-50737559

G

A

exonic

De novo

nonsynonymous SNV

NM_001001549
NM_001001550
NM_005311
NM_001001555

c.C364T
c.C190T
c.C364T
c.C190T

p.R122C
p.R64C
p.R122C
p.R64C

15.06

-

Ji2016 E
Krumm2015 E
Satterstrom2020 E
Zhou2022 GE

GRB10

ASDFI_1528

chr7:
50694583-50694583

G

A

exonic

De novo

synonymous SNV

NM_001001549
NM_001001550
NM_005311
NM_001001555

c.C597T
c.C423T
c.C597T
c.C423T

p.Y199Y
p.Y141Y
p.Y199Y
p.Y141Y

-

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

GRB10

1-0273-004

chr7:
50889794-50889806

ATAAAAGTCCGCC

A

intergenic

De novo

-

Yuen2017 G

GRB10

2-0286-004

chr7:
50841626-50841626

C

CGG

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRB10

AU4343302

chr7:
50754511-50754511

T

G

intronic

De novo

-

Yuen2017 G

GRB10

AU3964302

chr7:
50791825-50791825

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRB10

2-1281-003

chr7:
50700548-50700549

CT

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRB10

1-0568-003

chr7:
50695434-50695434

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRB10

7-0127-003

chr7:
51013691-51013691

C

T

intergenic

De novo

-

Yuen2017 G

GRB10

2-1379-003

chr7:
50819099-50819099

T

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

GRB10

7-0100-003

chr7:
50666145-50666145

G

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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