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Results for "GRB10"

Variant Events: 33

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     2-0242-004chr7:
50958885-50958885
TTCAintergenicDe novo--Yuen2017 G
GRB10     1-0286-004chr7:
50987391-50987391
GAintergenicDe novo--Yuen2017 G
GRB10     13393.p1chr7:
50850102-50850102
GCintronicDe novo--Turner2016 G
GRB10     1-0272-003chr7:
51063161-51063161
CTintergenicDe novo--Yuen2017 G
GRB10     2-0197-004chr7:
50818806-50818806
CGintronicDe novo--Yuen2017 G
GRB10     2-1741-003chr7:
50740772-50740772
GAintronicDe novo--Yuen2017 G
GRB10     5-0140-003chr7:
50937788-50937789
AGAintergenicDe novo--Yuen2017 G
GRB10     1-0259-003chr7:
50803683-50803683
GAintronicDe novo--Yuen2017 G
GRB10     2-1741-003chr7:
50720004-50720004
TAintronicDe novo--Yuen2017 G
GRB10     M17436chr7:
50673102-50673102
CTexonicPaternalnonsynonymous SNVNM_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     AU056005chr7:
50745816-50745816
GCintronicDe novo--Yuen2017 G
GRB10     214-17068-1chr7:
50663133-50663134
CAAsplicingPaternalsplicing--Stessman2017 T
GRB10     AU4028302chr7:
50868838-50868838
TGintergenicDe novo--Yuen2017 G
GRB10     1-0668-003chr7:
51042312-51042312
GAintergenicDe novo--Yuen2017 G
GRB10     2-1456-003chr7:
50779855-50779855
CGintronicDe novo--Yuen2017 G
GRB10     SSC06174chr7:
50737559-50737559
GAexonicDe novononsynonymous SNVNM_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
GRB10     261028chr7:
50737516-50737516
GAexonicUnknownnonsynonymous SNVNM_001001549
NM_001001550
NM_005311
NM_001001555
c.C407T
c.C233T
c.C407T
c.C233T
p.P136L
p.P78L
p.P136L
p.P78L
35.09.358E-6Stessman2017 T
GRB10     5-0030-003chr7:
50922607-50922609
CTTCintergenicDe novo--Yuen2017 G
GRB10     2-1456-004chr7:
50809707-50809707
CCAintronicDe novo--Yuen2017 G
GRB10     1-0295-003chr7:
50905223-50905223
TGintergenicDe novo--Yuen2017 G
GRB10     AU4186302chr7:
50890479-50890479
GAintergenicDe novo--Yuen2017 G
GRB10     1-0559-003chr7:
51005445-51005445
GAintergenicDe novo--Yuen2017 G
GRB10     12676.p1chr7:
50737559-50737559
GAexonicDe novononsynonymous SNVNM_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
GRB10     ASDFI_1528chr7:
50694583-50694583
GAexonicDe novosynonymous SNVNM_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
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
GRB10     1-0273-004chr7:
50889794-50889806
ATAAAAGTCCGCCAintergenicDe novo--Yuen2017 G
GRB10     2-0286-004chr7:
50841626-50841626
CCGGintronicDe novo--Yuen2017 G
GRB10     AU4343302chr7:
50754511-50754511
TGintronicDe novo--Yuen2017 G
GRB10     AU3964302chr7:
50791825-50791825
CTintronicDe novo--Yuen2017 G
GRB10     2-1281-003chr7:
50700548-50700549
CTCintronicDe novo--Yuen2017 G
GRB10     1-0568-003chr7:
50695434-50695434
CTintronicDe novo--Yuen2017 G
GRB10     7-0127-003chr7:
51013691-51013691
CTintergenicDe novo--Yuen2017 G
GRB10     2-1379-003chr7:
50819099-50819099
TAintronicDe novo--Yuen2016 G
Yuen2017 G
GRB10     7-0100-003chr7:
50666145-50666145
GCintronicDe novo--Yuen2017 G
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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