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Results for "GRIP1"

Variant Events: 48

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     AU4327303chr12:
67094258-67094258
CTintergenicDe novo--Yuen2017 G
GRIP1     PN400412chr12:
66839124-66839124
CTexonicUnknownnonsynonymous SNVNM_001178074
NM_021150
c.G1363A
c.G1363A
p.E455K
p.E455K
24.64.969E-5Leblond2019 E
GRIP1     PN400179chr12:
66839124-66839124
CTexonicUnknownnonsynonymous SNVNM_001178074
NM_021150
c.G1363A
c.G1363A
p.E455K
p.E455K
24.64.969E-5Leblond2019 E
GRIP1     2-1529-003chr12:
67194169-67194169
GAintergenicDe novo--Yuen2017 G
GRIP1     1-0991-003chr12:
67334991-67334991
CAintergenicDe novo--Yuen2017 G
GRIP1     7-0095-003chr12:
66794670-66794670
CTintronicDe novo--Yuen2017 G
GRIP1     iHART2051chr12:
67072642-67072642
GAexonicMaternalstopgainNM_001178074
NM_021150
c.C43T
c.C43T
p.R15X
p.R15X
37.03.332E-5Ruzzo2019 G
GRIP1     7-0133-003chr12:
67318384-67318388
GCTAAGintergenicDe novo--Yuen2017 G
GRIP1     1-0465-003chr12:
66748766-66748766
TGintronicDe novo--Yuen2017 G
GRIP1     1-0806-003chr12:
67125927-67125927
CTintergenicDe novo--Yuen2017 G
GRIP1     1-0388-003chr12:
66815843-66815843
CTintronicDe novo--Yuen2017 G
GRIP1     iHART2049chr12:
67072642-67072642
GAexonicMaternalstopgainNM_001178074
NM_021150
c.C43T
c.C43T
p.R15X
p.R15X
37.03.332E-5Ruzzo2019 G
GRIP1     1-0054-004chr12:
66995680-66995680
ATintronicDe novo--Yuen2017 G
GRIP1     Kenny2014:7chr12:
66923668-66923668
GAexonicUnknownstopgainNM_001178074
NM_021150
c.C445T
c.C445T
p.R149X
p.R149X
18.49-Kenny2014 T
GRIP1     2-1085-004chr12:
67184395-67184395
GAintergenicDe novo--Yuen2017 G
GRIP1     1-0272-003chr12:
66887394-66887394
AAAGTGGTACACintronicDe novo--Yuen2017 G
GRIP1     1-0175-003chr12:
66887394-66887394
AAAGTGGTACACintronicDe novo--Yuen2017 G
GRIP1     AU2485305chr12:
66784891-66784891
GAintronicDe novo--Yuen2017 G
GRIP1     AU2787301chr12:
67053696-67053696
GAintronicDe novo--Yuen2017 G
GRIP1     2-1737-003chr12:
66909740-66909740
ACintronicDe novo--Yuen2017 G
GRIP1     7-0183-003chr12:
66875441-66875441
CTintronicDe novo--Yuen2017 G
GRIP1     2-0045-003chr12:
66981627-66981627
GCintronicDe novo--Yuen2017 G
GRIP1     7-0055-003chr12:
67052082-67052082
TAintronicDe novo--Yuen2017 G
GRIP1     1-0465-003achr12:
66748766-66748766
TGintronicDe novo--Yuen2017 G
GRIP1     1-0563-003chr12:
66887394-66887394
AAAGTGGTACACintronicDe novo--Yuen2017 G
GRIP1     2-1275-003chr12:
67387291-67387291
CTintergenicDe novo--Yuen2017 G
GRIP1     09C86232Achr12:
66911807-66911807
ATintronicDe novo-5.885E-5Kosmicki2017 E
GRIP1     1-0252-003chr12:
66933243-66933243
TGintronicDe novo--Yuen2017 G
GRIP1     1420001chr12:
66786288-66786288
TCintronicDe novo--Satterstrom2020 E
GRIP1     5-0021-003chr12:
66863176-66863176
TAintronicDe novo--Yuen2017 G
GRIP1     AU3371305chr12:
67420226-67420226
TCintergenicDe novo--Yuen2017 G
GRIP1     1-0744-003chr12:
66845921-66845921
GAintronicDe novo--Yuen2017 G
GRIP1     AU4067301chr12:
67243324-67243324
GAintergenicDe novo--Yuen2017 G
GRIP1     1-0368-004chr12:
67243616-67243616
CGintergenicDe novo--Yuen2017 G
GRIP1     1-0826-003chr12:
66827202-66827202
GTintronicDe novo--Yuen2017 G
GRIP1     AU3692301chr12:
67262165-67262166
CACAAintergenicDe novo--Yuen2017 G
GRIP1     2-1269-003chr12:
67281967-67281967
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
GRIP1     2-1441-003chr12:
67122157-67122157
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
GRIP1     7-0078-003chr12:
66999759-66999759
TCintronicDe novo--Yuen2017 G
GRIP1     14370.p1chr12:
67215014-67215014
TAintergenicDe novo--Turner2016 G
GRIP1     Yalcintepe2021:7chr12:
66935707-66935707
CTexonicnonsynonymous SNVNM_001178074
NM_021150
c.G160A
c.G160A
p.V54I
p.V54I
19.120.0012Yalcintepe2021 T
GRIP1     2-1357-004chr12:
67316668-67316668
GCintergenicDe novo--Yuen2017 G
GRIP1     AU3605304chr12:
67021303-67021303
GCintronicDe novo--Yuen2017 G
GRIP1     1-0272-004chr12:
66887394-66887394
AAAGTGGTACACintronicDe novo--Yuen2017 G
GRIP1     2-1297-004chr12:
67113076-67113076
AGintergenicDe novo--Yuen2017 G
GRIP1     2-1644-003chr12:
66906397-66906397
TTAintronicDe novo--Yuen2017 G
GRIP1     14404.p1chr12:
67127944-67127944
ACintergenicDe novo--Wilfert2021 G
GRIP1     11045.p1chr12:
66747209-66747209
GTexonicMosaicnonsynonymous SNVNM_001178074
NM_021150
c.C2946A
c.C2991A
p.D982E
p.D997E
19.09-Dou2017 E
Source Variant Information

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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 notesView
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