Variant Results

or

Results for "GRIP1"

Variant Events: 49

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

GRIP1

SP0035531

chr12:
66786164-66786164

G

A

exonic

De novo

synonymous SNV

NM_001178074
NM_021150

c.C2232T
c.C2232T

p.P744P
p.P744P

0.781

-

Fu2022 E

GRIP1

PN400179

chr12:
66839124-66839124

C

T

exonic

Unknown

nonsynonymous SNV

NM_001178074
NM_021150

c.G1363A
c.G1363A

p.E455K
p.E455K

24.6

4.969E-5

Leblond2019 E

GRIP1

2-1529-003

chr12:
67194169-67194169

G

A

intergenic

De novo

-

Yuen2017 G

GRIP1

1-0991-003

chr12:
67334991-67334991

C

A

intergenic

De novo

-

Yuen2017 G

GRIP1

1-0806-003

chr12:
67125927-67125927

C

T

intergenic

De novo

-

Yuen2017 G

GRIP1

1-0272-003

chr12:
66887394-66887394

A

AAGTGGTACAC

intronic

De novo

-

Yuen2017 G

GRIP1

1-0175-003

chr12:
66887394-66887394

A

AAGTGGTACAC

intronic

De novo

-

Yuen2017 G

GRIP1

AU2485305

chr12:
66784891-66784891

G

A

intronic

De novo

-

Yuen2017 G

GRIP1

AU2787301

chr12:
67053696-67053696

G

A

intronic

De novo

-

Yuen2017 G

GRIP1

2-1737-003

chr12:
66909740-66909740

A

C

intronic

De novo

-

Yuen2017 G

GRIP1

7-0183-003

chr12:
66875441-66875441

C

T

intronic

De novo

-

Yuen2017 G

GRIP1

1-0465-003a

chr12:
66748766-66748766

T

G

intronic

De novo

-

Yuen2017 G

GRIP1

2-1275-003

chr12:
67387291-67387291

C

T

intergenic

De novo

-

Yuen2017 G

GRIP1

09C86232A

chr12:
66911807-66911807

A

T

intronic

De novo

-

5.885E-5

Kosmicki2017 E

GRIP1

1-0252-003

chr12:
66933243-66933243

T

G

intronic

De novo

-

Yuen2017 G

GRIP1

1-0368-004

chr12:
67243616-67243616

C

G

intergenic

De novo

-

Yuen2017 G

GRIP1

1-0826-003

chr12:
66827202-66827202

G

T

intronic

De novo

-

Yuen2017 G

GRIP1

2-1441-003

chr12:
67122157-67122157

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

GRIP1

7-0078-003

chr12:
66999759-66999759

T

C

intronic

De novo

-

Yuen2017 G

GRIP1

14404.p1

chr12:
67127944-67127944

A

C

intergenic

De novo

-

Wilfert2021 G

GRIP1

11045.p1

chr12:
66747209-66747209

G

T

exonic

Mosaic

nonsynonymous SNV

NM_001178074
NM_021150

c.C2946A
c.C2991A

p.D982E
p.D997E

19.09

-

Dou2017 E

GRIP1

AU4327303

chr12:
67094258-67094258

C

T

intergenic

De novo

-

Yuen2017 G

GRIP1

PN400412

chr12:
66839124-66839124

C

T

exonic

Unknown

nonsynonymous SNV

NM_001178074
NM_021150

c.G1363A
c.G1363A

p.E455K
p.E455K

24.6

4.969E-5

Leblond2019 E

GRIP1

7-0095-003

chr12:
66794670-66794670

C

T

intronic

De novo

-

Yuen2017 G

GRIP1

iHART2051

chr12:
67072642-67072642

G

A

exonic

Maternal

stopgain

NM_001178074
NM_021150

c.C43T
c.C43T

p.R15X
p.R15X

37.0

3.332E-5

Ruzzo2019 G

GRIP1

7-0133-003

chr12:
67318384-67318388

GCTAA

G

intergenic

De novo

-

Yuen2017 G

GRIP1

1-0465-003

chr12:
66748766-66748766

T

G

intronic

De novo

-

Yuen2017 G

GRIP1

1-0388-003

chr12:
66815843-66815843

C

T

intronic

De novo

-

Yuen2017 G

GRIP1

iHART2049

chr12:
67072642-67072642

G

A

exonic

Maternal

stopgain

NM_001178074
NM_021150

c.C43T
c.C43T

p.R15X
p.R15X

37.0

3.332E-5

Ruzzo2019 G

GRIP1

1-0054-004

chr12:
66995680-66995680

A

T

intronic

De novo

-

Yuen2017 G

GRIP1

Kenny2014:7

chr12:
66923668-66923668

G

A

exonic

Unknown

stopgain

NM_001178074
NM_021150

c.C445T
c.C445T

p.R149X
p.R149X

18.49

-

Kenny2014 T

GRIP1

2-1085-004

chr12:
67184395-67184395

G

A

intergenic

De novo

-

Yuen2017 G

GRIP1

2-0045-003

chr12:
66981627-66981627

G

C

intronic

De novo

-

Yuen2017 G

GRIP1

7-0055-003

chr12:
67052082-67052082

T

A

intronic

De novo

-

Yuen2017 G

GRIP1

1-0563-003

chr12:
66887394-66887394

A

AAGTGGTACAC

intronic

De novo

-

Yuen2017 G

GRIP1

1420001

chr12:
66786288-66786288

T

C

intronic

De novo

-

Fu2022 E
Satterstrom2020 E

GRIP1

5-0021-003

chr12:
66863176-66863176

T

A

intronic

De novo

-

Yuen2017 G

GRIP1

AU3371305

chr12:
67420226-67420226

T

C

intergenic

De novo

-

Yuen2017 G

GRIP1

1-0744-003

chr12:
66845921-66845921

G

A

intronic

De novo

-

Yuen2017 G

GRIP1

AU4067301

chr12:
67243324-67243324

G

A

intergenic

De novo

-

Yuen2017 G

GRIP1

AU3692301

chr12:
67262165-67262166

CA

CAA

intergenic

De novo

-

Yuen2017 G

GRIP1

2-1269-003

chr12:
67281967-67281967

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

GRIP1

14370.p1

chr12:
67215014-67215014

T

A

intergenic

De novo

-

Turner2016 G

GRIP1

Yalcintepe2021:7

chr12:
66935707-66935707

C

T

exonic

nonsynonymous SNV

NM_001178074
NM_021150

c.G160A
c.G160A

p.V54I
p.V54I

19.12

0.0012

Yalcintepe2021 T

GRIP1

2-1357-004

chr12:
67316668-67316668

G

C

intergenic

De novo

-

Yuen2017 G

GRIP1

AU3605304

chr12:
67021303-67021303

G

C

intronic

De novo

-

Yuen2017 G

GRIP1

1-0272-004

chr12:
66887394-66887394

A

AAGTGGTACAC

intronic

De novo

-

Yuen2017 G

GRIP1

2-1297-004

chr12:
67113076-67113076

A

G

intergenic

De novo

-

Yuen2017 G

GRIP1

2-1644-003

chr12:
66906397-66906397

T

TA

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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